Hereditary eye diseases in humans. Hereditary and acquired eye diseases: a list of diseases

The eyes are one of the most important organs for a person, associated with the brain and other organs. Based on the information given by the eyes, a person performs certain actions, orients himself in space, and forms the perception of actions and objects.

Some people, due to heredity, cannot use their eyesight to the fullest. Congenital eye anomalies occur in 1-2% of all newborns. modern medicine found more than 1200 genes responsible for the possibility of certain diseases.

Many of the hereditary eye diseases are asymptomatic, do not change visual acuity, so a person may not notice some small changes for a long time, and thereby loses precious time.

Types of hereditary eye diseases

Ophthalmologists divide hereditary diseases into 3 groups:

Among eye diseases that are inherited or that occur at the initial stage of fetal development, there are:

Glaucoma

Glaucoma- heavy chronic illness eye characterized by increased intraocular pressure (IOP). At the same time, it is affected optic nerve decreased vision and may lead to total blindness. The optic nerve completely dies, and blindness is irreversible.

Unfortunately, glaucoma is quite common, it affects people over the age of forty. According to WHO, the number of glaucoma patients in the world reaches 100 million people. At a younger age, glaucoma is much less common.

Intraocular pressure rises for two main reasons: the formation of an excessive amount of intraocular fluid and a violation of the excretion of intraocular fluid by the drainage system of the eye. The retention of intraocular fluid causes an increase in IOP, and high IOP leads to death of the optic nerve and blindness. However, what causes excessive fluid formation is still unknown. It is believed that hereditary factors play a huge role in the occurrence of glaucoma. If the family has relatives with glaucoma, it is necessary to undergo an examination by an ophthalmologist at least once a year.

Neglect of treatment for glaucoma inevitably leads to blindness.

There are several types of glaucoma:

congenital glaucoma. which can be called genetic reasons or diseases and injuries of the fetus during periods of embryonic development or childbirth. Congenital glaucoma manifests itself in the first weeks of life. The disease is quite rare - there is only 1 case of glaucoma per 10-20 thousand newborns.

The cause of the disease is most often heredity of an autosomal recessive type. In this case, anomalies of the eyeball are observed. The causes may also be the effects on the fetus of diseases such as measles rubella . flu . toxoplasmosis . mumps . hypoxia .

Juvenile or juvenile glaucoma. It develops in children after three years and young people up to 35 years of age. The causes of the disease are congenital changes in the iris of the eye.

Secondary glaucoma- this is a consequence of other eye or general diseases in which the eye structures responsible for the circulation and outflow of intraocular fluid from the eye are affected. Causes can also be mechanical damage to the eye.

Primary glaucoma in adults- most frequent view chronic glaucoma, which is associated with age-related eye changes. The disease is divided into 4 main clinical forms: open-angle glaucoma. mixed glaucoma. angle-closure glaucoma and glaucoma with normal IOP .

Symptoms of glaucoma

Symptoms of glaucoma directly depend on the form and stage of development of the disease. Its insidiousness is that at the initial stage of the disease, 80% of patients do not experience any inconvenience. What should be alarming:

Congenital glaucoma in children is manifested by stretching of the cornea, which is elastic in newborns and returns to normal size after the first week of life. With glaucoma, the eyes appear more expressive and larger than normal. This leads to stretching and thinning of the retina and its further detachment with breaks.

Observed myopia or myopic astigmatism . slight increase in intraocular pressure early stages diseases. There is swelling of the cornea, which leads to deterioration of vision, and in the future it is associated with atrophy of the optic nerve and deformation of the fundus.

The main task in the treatment of glaucoma is to preserve visual functions with minimal side effects from the therapy used and maintaining a normal quality of life for the patient. The key to successful treatment is the correct understanding by the patient of the serious prognosis of the disease and the need for adequate treatment.

Treat glaucoma conservative(medical) method, laser and surgical way. Drug treatment, in turn, is carried out in three areas: ophthalmo-hypotensive therapy - measures aimed at reducing intraocular pressure. Measures aimed at improving the blood supply to the inner eye membranes and the intraocular part of the optic nerve. Normalization of metabolism (metabolic processes) in the eye tissues to influence the dystrophic processes that are characteristic of glaucoma. The symptoms of glaucoma and its complications are stopped.

Previously, pilocarpine, a drug that constricts the pupil of the eye, was used to treat glaucoma with drugs. Now he has been replaced by new drugs: Betoptic . Betadine . Timolol . Trusopt . Xalatan and a number of others. The latest drugs allow a more targeted effect on glaucoma: reduce fluid production and improve its outflow.

Laser treatment became possible not so long ago, after the creation of modern ophthalmic laser systems with a certain set of parameters that affect the structures of the eyeball. This made it possible to develop and apply a variety of methods for laser treatment of glaucoma.

Laser treatment of glaucoma has a number of advantages: firstly, low invasiveness of the procedure, and secondly, complete absence serious complications that may occur in postoperative period, thirdly, the possibility of carrying out treatment on an outpatient basis, which significantly affects the savings, the possibility of conducting, if necessary, repeated laser interventions, with a significant decrease in the hypotensive effect in the postoperative period.

Laser treatment of glaucoma carried out according to the following methods:

Surgical treatment consists in creating an alternative system for the outflow of intraocular fluid, after which intraocular pressure normalizes without the use of medications.

Different forms and types of glaucoma suggest different types of surgical intervention and are solved, each time, individually. An exception is congenital glaucoma in children, this form of the disease is treated only by surgical methods.

Prevention of glaucoma

Glaucoma is perhaps the most common cause of blindness, and therefore the prevention of disease progression is of great socio-economic importance for both the individual and society as a whole.

The course of the disease largely depends on the patient's lifestyle; glaucoma treatment cannot be successful without lifestyle modification. Physical and nervous overload should be avoided, especially at an older age. The permissible maximum weight for lifting should not exceed 10 kg. You should also not read in poor lighting and for a long period.

Of great importance is the diet, it is necessary to eat rationally, according to age. Preference should be given to vegetable dishes, fish, raw vegetables and fruits and limit the intake of animal fats and sugar. Nicotine is very harmful to the eyes, therefore, it is better to give up smoking, the sooner the better.

The most effective in the prevention of glaucoma is a systematic examination by an ophthalmologist and control of intraocular pressure, for people over 40-45 years old. You need to visit a doctor at least once a year. Particularly attentive to the prevention of glaucoma should be people who have relatives with glaucoma.

In the case when the first symptoms of glaucoma appear, you should immediately consult a doctor. If any form of glaucoma is detected, it is imperative to be under dispensary observation with an ophthalmologist. Remember that at present, medicine is not able to restore vision lost as a result of the progression of glaucoma.

congenital glaucoma

congenital glaucoma

Congenital glaucoma is a genetic, less often acquired in utero disease, which is characterized by underdevelopment of the angle of the anterior chamber of the eye and the trabecular meshwork, which ultimately leads to an increase in intraocular pressure. This condition is considered relatively rare in ophthalmology and occurs in approximately one case per 10,000 births. Some researchers believe that these statistics do not quite correctly reflect reality, because some forms of congenital glaucoma may not manifest themselves until adolescence. Despite the fact that the pathology is inherited by an autosomal recessive mechanism, boys are somewhat prevalent among patients - the sex distribution is approximately 3:2. According to the age of development of the main symptoms, as well as the presence or absence of genetic defects, several clinical forms of this disease are distinguished. The importance of timely detection of congenital glaucoma is due to the fact that without treatment, a child can go blind 4-5 years after the development of the first manifestations of the pathology.

Causes of congenital glaucoma

The vast majority of cases of congenital glaucoma (at least 80%) are accompanied by a mutation of the CYP1B1 gene, which is localized on the 2nd chromosome. It encodes the cytochrome P4501B1 protein, the functions of which have not been sufficiently studied to date. It is assumed that this protein is somehow involved in the synthesis and destruction of signaling molecules that are involved in the formation of the trabecular network of the anterior chamber of the eye. Defects in the structure of cytochrome P4501B1 lead to the fact that the metabolism of the above compounds becomes abnormal, which contributes to impaired eye formation and the development of congenital glaucoma. Now more than fifty varieties of CYP1B1 gene mutations are known that are reliably associated with the development of this disease, but it has not yet been possible to identify the relationship between specific gene defects and certain clinical forms.

In addition, there are indications of a role in the development of congenital glaucoma of another gene, MYOC, located on the 1st chromosome. Its expression product, a protein called myocillin, is widely distributed in eye tissues and is also involved in the formation and functioning of the trabecular meshwork of the eye. Mutations in this gene were previously known to be the cause of juvenile open-angle glaucoma. however, with simultaneous damage to MYOC and CYP1B1, a congenital version of this pathology develops. Some researchers in the field of genetics believe that the detection of a mutation in the myocillin gene against the background of a defect in CYP1B1 does not play a special role. clinical role in the development of congenital glaucoma and is just a coincidence. Mutations in both of these genes are inherited in an autosomal recessive manner.

In addition to hereditary forms of this pathology, congenital glaucoma is diagnosed in approximately 20% of cases in the absence of both cases of the disease and pathological genes in parents. In this case, the cause of the development of eye disorders can be either spontaneous mutations or damage to the tissues of the eye in the prenatal period. The latter may be due to infection of the mother during pregnancy with certain infections (for example, toxoplasmosis, rubella), intrauterine fetal injuries, retinoblastoma. exposure to teratogenic factors. Since there is no genetic defect in this situation, this pathology is called secondary congenital glaucoma. In addition, similar disorders of the organ of vision can occur with some other congenital diseases (Marfan's syndrome, anhidrosis, and others).

Whatever the cause of congenital glaucoma, the mechanism for the development of disorders in this condition is almost the same. Due to the underdevelopment of the angle of the anterior chamber of the eye and the trabecular meshwork, aqueous humor cannot normally leave the cavity, it accumulates, which is accompanied by a gradual increase in intraocular pressure. A feature of congenital glaucoma is the fact that the tissues of the sclera and cornea in children have greater elasticity than in adults, therefore, with the accumulation of moisture, the size of the eyeball increases (most often two at once, very rarely only one). This somewhat reduces intraocular pressure, but over time, this mechanism becomes insufficient. There is a flattening of the lens and the cornea, the latter may appear micro-ruptures, leading to opacification; the optic disc is damaged, the retina becomes thinner. Ultimately, its detachment can occur - corneal clouding and retinal detachment are the leading causes of blindness in congenital glaucoma.

Classification of congenital glaucoma

In clinical practice, congenital glaucoma is primarily divided into three varieties - primary, secondary and combined. Primary is caused by genetic disorders, is inherited by an autosomal recessive mechanism and accounts for about 80% of all cases of the disease. The cause of secondary congenital glaucoma is an intrauterine disorder in the formation of the organs of vision of various non-genetic nature. The combined variety, as the name implies, is accompanied by the presence of congenital glaucoma against the background of other hereditary diseases and conditions. The primary form, due to genetic defects, in turn is divided into three clinical forms:

1. Early congenital glaucoma - with this form, signs of the disease are detected at birth, or they appear in the first three years of a child's life.
2. Infantile congenital glaucoma - develops at the age of 3-10 years, its clinical course already bears little resemblance to the early type and approaches that of adults with other forms of glaucoma.
3. Juvenile congenital glaucoma - the first manifestations of this form of the disease are recorded most often in adolescence, the symptoms are very similar to the infantile type of pathology.

Such a significant spread in the age of development of congenital glaucoma is directly related to the degree of underdevelopment of the trabecular network of the eye. The more pronounced violations in these structures, the earlier begins the accumulation of aqueous humor with an increase in intraocular pressure. If the underdevelopment of the angle of the anterior chamber of the eye does not reach significant values, then in the first years of the child's life the outflow occurs quite normally, and the disturbances develop much later. Attempts to associate certain clinical forms of congenital glaucoma with specific types of CYP1B1 gene mutations have not been successful to date, and the mechanisms for the development of one or another type of disease are still unknown.

Symptoms of congenital glaucoma

The most peculiar manifestations are characterized by an early form of primary congenital glaucoma, which is due to anatomical features structure of the eye in a child under the age of 3 years. In very rare cases, glaucoma changes can be noticed already at birth, most often in the first 2-3 months of life, the disease does not manifest itself. Then the child becomes restless, sleeps poorly, very often naughty - this is due to unpleasant and painful sensations, from which congenital glaucoma debuts. After a few weeks or months, a slow increase in the size of the eyeballs (rarely one) begins. An increase in intraocular pressure and elasticity of the sclera tissues can lead to a significant increase in the eyes, which outwardly creates a false impression of a beautiful "big-eyed" child. Then edema, photophobia, lacrimation join these symptoms, and sometimes there is clouding of the cornea.

Infantile and juvenile forms of congenital glaucoma are very similar in many respects, only the age of development of the first manifestations of the disease differs. An increase in the size of the eyeballs, as a rule, does not occur, the pathology begins with a feeling of discomfort and soreness in the eyes, headaches. The child may complain of a deterioration in vision (the appearance of bright halos around light sources, "midges" before the eyes). These types of congenital glaucoma are often accompanied by other disorders of the visual apparatus - strabismus. astigmatism. myopia. Over time, there is a narrowing of the field of view (the ability to see objects with peripheral vision is lost), a violation of dark adaptation. Photophobia, edema, and vascular injection of the sclera, characteristic of the early form of the disease, are most often not observed in these forms. Left untreated, any type of congenital glaucoma eventually leads to blindness due to retinal detachment or optic nerve atrophy.

Diagnosis of congenital glaucoma

The detection of congenital glaucoma is performed by an ophthalmologist on the basis of examination data, ophthalmological studies (tonometry, gonioscopy, keratometry, biomicroscopy, ophthalmoscopy, ultrasound biometry). Also, an important role in the diagnosis of this condition is played by genetic studies, the study of hereditary history and the course of pregnancy. On examination, enlarged (with an early form) or normal size of the eyes are found, swelling of the tissues surrounding the eyeball may also be observed. The horizontal diameter of the cornea is increased, microtears and clouding are possible on it, the sclera is thinned and has a bluish tint, it is affected in congenital glaucoma and the iris - atrophic processes occur in it, the pupil reacts sluggishly to light stimuli. The anterior chamber of the eye is deepened (1.5-2 times more than the age norm).

At the bottom of the eye long time no pathological changes occur, since due to an increase in the size of the eyeball, intraocular pressure at first does not reach significant values. But then the excavation of the optic disc develops quite quickly, however, with a decrease in pressure, the severity of this phenomenon also decreases. Due to the increase in the size of the eyes in congenital glaucoma, thinning of the retina occurs, which, if left untreated, can lead to its rupture and rhegmatogenous detachment. Often, against the background of such changes, myopia is detected. Tonometry shows a slight increase in intraocular pressure, but this indicator should be compared with the anterior-posterior size of the eye, since scleral stretching smooths out IOP.

The study of hereditary history can reveal similar changes in the patient's relatives, while it is often possible to determine the autosomal recessive type of inheritance - this indicates in favor of primary congenital glaucoma. Presence during pregnancy infectious diseases mother, trauma, exposure to teratogenic factors indicates the possibility of developing a secondary form of the disease. Genetic diagnostics is carried out by direct sequencing of the CYP1B1 gene sequence, which makes it possible to identify its mutations. Thus, only a geneticist can unambiguously prove the presence of primary congenital glaucoma. In addition, in the presence of such a condition in one of the parents or their relatives, it is possible to search for the pathological form of the gene before conception or prenatal diagnosis by amniocentesis or other methods.

Treatment and prognosis of congenital glaucoma

Treatment of congenital glaucoma is only surgical, it is possible to use modern laser technologies. Conservative therapy using traditional means(drops of pilocarpine, clonidine, epinephrine, dorzolamide) is an auxiliary and can be used for some time while waiting for the operation. Surgical intervention is reduced to the formation of an aqueous humor outflow tract, which reduces intraocular pressure and eliminates congenital glaucoma. The method and scheme of the operation is chosen in each case strictly individually. Depending on the clinical picture and features of the structure of the eyeball, goniotomy, sinustrabeculectomy can be performed. drainage operations, laser cyclophotocoagulation or cyclocryocoagulation.

The prognosis of congenital glaucoma with timely diagnosis and surgery is most often favorable, but if the treatment is delayed, visual impairments of various severity are possible. After elimination of glaucoma, at least three months are required dispensary observation at the ophthalmologist.

General characteristics of the disease

Under medical term"Glaucoma" is commonly understood as a whole group of severe ophthalmic pathologies. The disease got its name from the Greek word "????????", literal translation which stands for "blue blurred eyes". Such an exotic name of the disease is due to the special color of the pupil. With glaucoma, it becomes a specific blue-green color, acquires an extended immobile state and leads to complete blindness.

Signs of glaucoma can be diagnosed in a person of any age. However, glaucoma occurs most frequently in the elderly. So, for example, cases of congenital glaucoma are diagnosed in only one child for 15-20 thousand children in the first months of life. In persons over 75 years of age, diagnosed cases of glaucoma are already more than 3%.

Causes of glaucoma

At the moment, there is no consensus in medical scientific circles about the causes and mechanisms of glaucoma development. As one of the versions, the theory of the influence of increased intraocular pressure is considered.

It is believed that systematic or intermittent increased IOP can lead to trophic disorders in the structure of the eye, fluid outflow disorders and other complications that cause retinal and optic nerve defects in glaucoma.

The version about the multifactorial nature of the disease with glaucoma is also quite common. The combination of factors that cause glaucoma includes hereditary causes, anomalies in the structure of the organs of vision, trauma, pathology of the nervous, vascular and endocrine systems.

According to this theory, the summing action of all or several of the above factors can trigger the mechanism for the development of glaucoma.

The term "glaucoma" includes more than 60 various types diseases with specific symptoms. Glaucoma of any of these types is primarily characterized by damage to the fibers of the optic nerves. Over time, the process passes into the stage of complete atrophy of the visual function.

Most early symptom Glaucoma is a poor outflow of intraocular fluid from the eyeball. It is followed by a deterioration in the blood supply to the tissues of the eye, hypoxia and ischemia of the optic nerves. Lack of oxygen to the tissues of the eye, as one of the signs of glaucoma, leads to the gradual destruction and atrophy of the optic fibers.

Some of them may be in a state of so-called parabiosis (sleep). This allows you to restore the function of the eye with timely treatment of glaucoma.

Types of glaucoma

Congenital glaucoma is most often genetically predetermined or caused by intrauterine infections. Symptoms of this type of glaucoma manifest themselves in the first weeks of life. A child is born with high intraocular pressure, bilateral enlargement of the cornea or the entire eyeball. In everyday life, congenital glaucoma is sometimes called dropsy of the eye or bull's eye.

Juvenile or youthful glaucoma is diagnosed in children older than 3 years. In late cases of manifestation of signs of glaucoma, the disease can manifest up to 35 years. At an older age, diagnosed glaucoma is already referred to as adult and can be primary or secondary.

Secondary glaucoma is commonly understood as clouding of the pupil and signs of optic nerve atrophy, which have become a complication of another ophthalmic disease.

Types and stages of primary glaucoma

Primary glaucoma is the most common type of the disease. It is closed and open angle.

To clinical symptoms open-angle glaucoma refers to the slow progression of the disease, the absence of any discomfort in a patient, the appearance of the effect of rainbow circles at a late stage of the disease and the gradual blurred vision. Open-angle glaucoma usually affects both eyes at once, but develops asymmetrically (at a different pace in both eyes).

Angle-closure glaucoma is more often diagnosed in women, as predisposing factors for this type of disease are the small size of the eye. Symptoms of this type of glaucoma include the presence of acute bouts of vision loss. Under the influence of nervous shocks, overwork or prolonged work in an uncomfortable position during an attack, a sharp blurred vision occurs, pain in the eyes, nausea, and vomiting can be observed. Then the patient enters a state of preglaucoma with a period of relatively normal vision.

Depending on the severity of the disease, glaucoma is divided into four stages of glaucoma:

Diagnosis of glaucoma

The effectiveness of glaucoma treatment depends on timely diagnosis of the disease. The leading role in it is the definition of indicators intracranial pressure using tonometry or elastotonometry. The quality of intraocular fluid outflow in glaucoma is studied through the use of electronic tonography.

The perimetry method for measuring the boundaries of vision, as well as gonioscopy, are also of high value in the diagnosis of the disease. With the help of the last named method, the structures of the anterior chamber of the eye are examined. To find out qualitative and quantitative disorders in the structure of the optic nerves allows the use of scanning laser ophthalmoscopy.

Each of these methods is highly informative, so only one of them can be used in dynamic monitoring of the effectiveness of glaucoma treatment.

Glaucoma treatment

Treatment for glaucoma can be medical or surgical. Operations for glaucoma, in turn, are also of two types: traditional, performed using a microsurgical scalpel or laser.

The basis for the medical treatment of glaucoma are three directions:

Leading role in drug treatment glaucoma has ophthalmohypotensive therapy (lowering IOP). The other two directions are of an auxiliary nature. For example, they use a natural plant complex from Dr. Pankov to treat diseases of the organs of vision.

The use of conservative treatment of glaucoma is indicated only in the early stages of the disease. With glaucoma III-IV degree and inefficiency drug therapy in the removal of an acute attack, a surgical operation is recommended.

Laser surgery for glaucoma allows you to eliminate obstacles to the outflow of intraocular fluid. The technique of laser surgery for glaucoma involves the use of iridectomy or trabeculoplasty techniques. Their essence is to create a microexplosion for local tissue rupture or inflicting a burn with subsequent scarring.

The advantages of laser surgery for glaucoma include a short rehabilitation period, outpatient conditions and local anesthesia during the application of the technique. The main disadvantage of laser surgery for glaucoma is the limited effect. At the stage of mature glaucoma, only radical surgery is used.

The disease is treated surgically using several types of techniques:

There is no single standard in the application of one or another type of operation for glaucoma. In each case, the type of operation for glaucoma is selected individually.

Alternative treatment of glaucoma

The prevalence of the disease has led to the emergence of a huge number of methods folk treatment glaucoma. Some of them, for example, medical nutrition, the use of sunglasses, breathing exercises, air procedures are welcomed by official medicine.

However, it must also be recognized that many treatments for glaucoma folk remedies official medicine looks skeptical: be it infusions of duckweed, wood lice, lotions with scarlet juice, instillation of honey in the eyes, etc.

Plan

Introduction

Autosomal recessive inheritance pattern

Autosomal dominant inheritance pattern

floor-linked

For all types of inheritance

Conclusion

Used Books

Introduction

In recent decades, the role of heredity in the etiology of eye diseases has increased significantly. It is known that 4 - 6% of the world's population suffer from hereditary ailments. About 2000 human diseases are hereditary, of which 10-15% are eye diseases, the same number are systemic diseases with eye manifestations. Mortality and hospitalization of these patients are the highest, therefore, early diagnosis and treatment of such diseases is not only a medical problem, but also a national one.

Children are especially vulnerable to hereditary and congenital defects. According to Canadian geneticists, congenital deformities account for 18.4%, most of which are genetically determined. Mortality in these diseases reaches 30%.

There is information about 246 pathological genes that cause congenital anomalies of the organ of vision, which manifest themselves in isolation or in combination with damage to other organs and systems. Of these, dominant are determined by 125 genes, recessive - by 91 genes, sex-related - by 30 genes. The role of hereditary factors in the etiology of the disease of the organ of vision was revealed in 42.3% of cases.

Many anomalies arise in connection with the abnormal development and formation of the eye or its individual components in different periods ontogeny. They can develop in the very early stages of eye formation under the influence of many physical, chemical, teratogenic agents and dysfunction of hormonal processes. For example, microphthalmos is a consequence of disorders that have arisen in the phase of formation of the eye bubble. Exposure to harmful factors at later stages of eye development leads to the formation of defects in the lens, the retina of the optic nerve. However, it should be noted that the occurrence of these developmental defects may be the result of phenocopy (a hereditary change in the phenotype of an organism caused by environmental factors and copying the manifestation of any known hereditary change - a mutation in this organism).

Progress in the prevention of congenital eye diseases lies in the correct control of factors that can affect the disease of the body of a pregnant woman. Proper prenatal care and appropriate nutrition provide the fetus with favorable conditions development. After clarifying the diagnosis and establishing the type of inheritance of the disease, the ophthalmologist, together with a geneticist and other medical specialists, must determine the risk of such a defect in the offspring. Medico-genetic consultations contribute to the prevention of blindness from many hereditary eye diseases.

Hereditary pathology of the organ of vision in an autosomal recessive type of inheritance

Autosomal recessive inheritance occurs only when two heterozygotes are married. Therefore, such signs are found when the parents are closely related. The lower the concentration of an autosomal recessive gene in a population, the greater the likelihood of its implementation with the consanguinity of the parents.

Anophthalmos is the congenital absence or loss of one or both eyeballs. It happens true and imaginary. True anophthalmos is most often unilateral, associated with underdevelopment of the forebrain or with a violation of the “lacing off of the optic nerve. Imaginary anophthalmos is due to a delay in the development of the eyeball. On the x-ray of the skull with true anophthalmos, the optic opening is not detected, with an imaginary one it is always present.

Nystagmus (eye trembling) - fast and infrequent voluntary eye movements caused by central or local causes, due to a peculiar form of clinical spasms of the oculomotor muscles. Movements are made in the horizontal, vertical and rotational direction. Nystagmus develops due to congenital or acquired early childhood weakness of vision, when there is no fixation with a yellow spot of the retina. Nystagmus causes no trouble to patients, but they suffer greatly from a weakness of vision, which is difficult to correct. With age, its intensity may decrease. Nystagmus can also appear in some diseases of the central nervous system, with damage to the labyrinth, etc. Treatment is most often unsuccessful. The cause itself must be eliminated.

Cryptophthalmos - there is a deformation of the eyelids and everything anterior section eyeball. Cryptophthalmos is often accompanied by pronounced facial deformities, syndactyly (fusion of arms and legs, for example, the little finger with the ring finger), genital anomalies, etc.

Retinoblastoma is true malignant neoplasm retina that occurs in children in early age(from several months to 2 years). In 15% of cases, it can be bilateral. The disease is not noticeable at first, but when the disease reaches a significant size and approaches the posterior surface of the lens, the parents notice, as it were, the glow of the pupil. In this case, the eye is blind, the pupil is wide, a yellowish-white reflex is visible from the depth of the pupil. This whole complex of symptoms is called "amaurotic cat's eye." Retinoblastoma develops from immature glial elements of the retina and is initially visible as a thickening of the retina in a limited area. If the eye is not removed in time, the tumor grows into the orbit and the cranial cavity. Treatment is early removal of the eye followed by radiotherapy. Attempts of X-ray therapy, chemotherapy did not give convincing positive results.

Retinal glioma - a malignant neoplasm of the optic nerve, a tumor of glia (interstitial tissue of the central nervous system), grows slowly, reaching the size of a nut or a goose egg. It can lead to complete blindness and even death. The tumor most often develops at an early age. It is not excluded the defeat of older people. The first signs of tumors of the optic nerve are reduced vision and changes in the visual field. Exophthalmos grows slowly. In this case, the eye usually protrudes forward, its mobility, as a rule, is preserved in full. Treatment is surgical.

Hereditary pathology in autosomal dominant inheritance

Autosomal dominant inheritance of anomalies is characterized primarily by significant phenotypic variability: from a barely noticeable to an overly intense trait. As it is passed down from generation to generation, this intensity increases more and more. Except for the inheritance of blood properties, modern anthropogenetics so far has information mainly only about rare traits, many of which are inherited according to Mendel's laws or represent a case of additions to them.

Astigmatism - discovered at the end of the 18th century. Astigmatism is a combination of different types of refraction or different degrees of one type of refraction in one eye. In astigmatic eyes, the two perpendicular planes of section with the greatest and least refractive power are called the main meridians. Most often they are located vertically or horizontally. But they can also have an oblique arrangement, forming astigmatism with oblique axes. In most cases, refraction in the vertical meridian is stronger than in the horizontal. Such astigmatism is called direct. Sometimes, on the contrary, the horizontal meridian refracts more than the vertical - reverse astigmatism. Distinguish between right and wrong. Incorrect usually of corneal origin. It is characterized by local changes in the refractive power on different segments of the same meridian and is caused by diseases of the cornea: scars, keratoconus, etc. The correct one has the same refractive power throughout the entire meridian. This is a congenital anomaly, inherited and changes little during life. People suffering from astigmatism (about 40 - 45% of the world's population) need optical correction, that is, they cannot see objects in different planes without glasses. It is eliminated with the help of glasses with cylindrical glasses and with the help of contact lenses.

Hemerolopia is a permanent impairment of twilight vision (night blindness). The central vision decreases, the field of vision gradually concentrically narrows.

Coloboma - a defect in the edge of the eyelid in the form of a triangular or semicircular notch. More often seen on upper eyelid in its middle third. Often combined with other facial deformities. Treatment - with these anomalies, plastic surgery gives good results.

Aniridia - absence of the iris, severe congenital pathology of the vascular tract of the eye. There may be partial or almost complete aniridia. There is no need to talk about complete aniridia, since at least slight remnants of the iris root are found histologically. With aniridia, there are frequent cases of congenital glaucoma with symptoms of eyeball distention (hydrophthalmos), which depend on the fusion of the anterior chamber angle with embryonic tissue. Aniridia is sometimes associated with anterior and posterior polar cataracts, lens subluxation, and rarely with lens coloboma.

Microphthalmos - underdevelopment of the entire eyeball, with a decrease in all its sizes, a "small eye".

Ectopic lens - displacement of the lens of the lens. The most typical example is the ectopia of the lens, which is observed with a family-hereditary lesion of the entire musculoskeletal system, which is expressed in lengthening of the distal phalanges of the fingers and toes, lengthening of the limbs, weakness of the joints. Severe endocrine disorders. This disease is called arachnodactyly, or Marfan's syndrome. In the eyes, a symmetrical displacement of the lens is found. More often the lens is displaced upward and inward or upward and outward.

The displacement of the lens may be accompanied by the development of cataracts.

Congenital malformations, including eye anomalies, account for approximately 1 to 2% of all newborns (L. Badmaeva and L. Volkhovitinova). According to these authors, the frequency of deformities in newborn children whose parents were exposed to atomic radiation in Nagasaki is about 19%, which is 10-20 times higher than the usual frequency of anomalies and indicates an exceptionally strong mutogenic effect of ionizing radiation.

The causes and pathogenesis of congenital eye anomalies are extremely diverse, complex and influenced by numerous internal and environmental factors and their combinations.

Among internal factors matter:

1. heredity;
2. violations for one reason or another of the inducing action of some tissues on the growth and differentiation of others in the process of intrauterine development of the eyes;
3. violations of the reactivity of some tissues in response to the inducing effects of others;
4. teratogenic termination periods;
5. violations of hormonal correlations;
6. the age of the parents;
7. Rh incompatibility of mother and fetus;
8. congenital anomalies of metabolism;
9. chromosomal aberrations;
10. endogamous and related marriages and other factors.

Pathological heredity is based, as is known, on damage to special nuclear hereditary structures of germ cells (chromosomes and genes) - the material carriers of heredity. These are the so-called ideokinetic damages (gene mutations), leading to the appearance of anomalies that are inherited from generation to generation, can occur spontaneously, that is, due to reasons unknown to us. Hereditary anomalies, on the other hand, can also arise as a result of the harmful effects on chromosomes and genes of the already known numerous environmental factors.

An increasing role in the origin of hereditary anomalies, including ocular ones, is recently attributed to violations of the chromosomal set of germ cells of the parents and a change in the mutual arrangement of chromosomes compared to the norm (chromosomal diseases).

Normally, a person in a fertilized egg and in all somatic cells of the body has 23 pairs (diploid set) of chromosomes. The amazing constancy of this number in descending generations is possible only due to the reduction division of germ cells in the process of their maturation, which is accompanied by the divergence of the chromosomes of each pair. As a result of division, each filial spermatozoon and each daughter egg receive not a pair, but one chromosome. Only after fertilization of the egg, the pairing of chromosomes is restored, reaching a normal total of 46 chromosomes. Under the influence various reasons the chromosomes of one or another pair do not diverge, which ultimately leads to the appearance of a smaller (45) or more (47) number of chromosomes in the daughter fertilized eggs and is the cause of various, often very severe, hereditary anomalies.

Currently, some authors admit the possibility of congenital anomalies as a result of damage to the cytoplasm of the germ cells of the parents (cytokinetic anomalies). These anomalies are not inherited to subsequent generations. Other authors (S.N. Davidenkov, V.P. Efroimson and others) reject the possibility of cytokinetic anomalies.

Of great importance in the origin of hereditary eye diseases is the consanguinity of parents and endogamous marriages between members of closed population groups, classes or castes due to various racial, religious, social, geographical conditions and other reasons. Such marriages eventually lead to the fact that, within a few generations, the majority of those who marry become relatives. Under such conditions, there are more chances for heterozygotes to marry, in each of which the pathological recessive gene is suppressed by the dominant paired normal gene (allele) to it, and outwardly (phenotypically) the hereditary anomaly will not manifest itself in them. But some of their children will become homozygotes, who will receive a recessive vicious gene from both father and mother in the absence of a dominant allele that suppresses the recessive gene. Only in such offspring - homozygotes - can an outwardly recessive hereditary disease, hidden in their heterozygous parents, manifest itself.

If damage to the genes in the nuclei of the germ cells of the parents occurs even before the fertilization of the egg and before the onset of conception, then in such cases they speak of gametopathies.

An important role in the origin of congenital anomalies is played by teratogenic termination periods, i.e., those critical periods of time in the intrauterine development of a living being, when enhanced differentiation of eye tissues occurs. During these periods, the developing tissues of the eye are most sensitive to the effects of endo- and exogenous damaging factors. For the human eye, the teratogenic termination period falls mainly from half of the second to the end of the seventh week of pregnancy. At this time, there is still no placental circulation, the developing living being is still called the embryo, and the anomalies that have arisen at this time are called embryopathies.

Anomalies that arose in a later period, after the establishment of placental circulation, are called fetopathy (fetus - fetus).

Local disorders of induction and reactivity can cause hypo- and aplasia of eye tissues and the eyeball as a whole, persistence of fetal relationships, as well as excessive tissue growth (hyperplasia).

Intrauterine hormonal discrepancies leading to various anomalies in the development of the eye (retinal folds, anophthalmos, etc.) can be observed in disorders of the functions of various endocrine glands, especially parathyroid and pancreatic glands (congenital cataracts, aphasia, etc.).

The late age of the mother (35 years and older) also has great importance as causative factor a number of eye anomalies (with Down's disease, chondrodystrophy, etc.).

This is due to the more frequent nondisjunction of chromosomes in the process of reductional division of germ cells in the case of the late age of the mother.

Rh incompatibility between mother and fetus can cause a variety of eye anomalies (colobomas, microphthalmos, cataracts, etc.).

Congenital and hereditary metabolic anomalies in the mother, fetus and fetus can cause severe, sometimes fatal general diseases in children, accompanied by a variety of anomalies and eye diseases (albinism, Gaucher's disease, galactosemia, diabetes, gargoylism, family amaurotic idiocy, etc.).

Due to great achievements recent years in the study of the problem of human heredity and in the field of experimental genetics, more and more attention is paid to the role of environmental factors in the origin of congenital hereditary and non-hereditary (peristatic) eye anomalies. Anomalies that have developed on the basis of the harmful effects of environmental factors now greatly prevail over anomalies of spontaneous genetic origin, which previously played a dominant role.

Environmental factors surrounding the embryo and fetus can cause the development of such anomalies (phenocopies) that cannot be outwardly distinguished from true hereditary anomalies of the eye.

Among environmental factors, a particularly important role belongs to various types ionizing radiation (X-rays, radium, neutrons), which can cause both damage to chromosomes, genes and non-disjunction of chromosomes of germ cells, as well as damage to somatic cells, with the subsequent possible development of hereditary and congenital non-hereditary general and eye anomalies in the offspring.

It is possible that natural irradiation of the earth's surface with radioactive substances or cosmic rays for a very long time is one of the causes of spontaneous mutations that can, apparently, cause the development of malignant neoplasms.

Intoxications of various kinds (alcohol, ether, chloroform, contraceptives and abortifacients, some sleeping pills, magnesium, lithium, selenium, trypan blue, etc.) can also cause such severe eye anomalies as microphthalmos, anophthalmos, etc.

Oxygen starvation of the fetus, caused by a violation of the blood supply to the uterus, placental disease, bleeding, ectopic pregnancy, can lead to such malformations as anencephaly in combination with Fallot's tetralogy, Down's disease, etc.

infectious and viral diseases mothers, especially early dates pregnancies (up to 3 months), are often accompanied by embryopathies and are one of the most important reasons for the development of various congenital eye anomalies.

Gregg (1941) was the first to describe malformations of the eyes in newborns, mainly cataracts, which arose on the basis of viral rubella, transferred by the mother at the beginning of pregnancy. These malformations were later found in many other viral infections (measles, parotitis, smallpox, chicken pox, poliomyelitis, herpes zoster, viral hepatitis, etc.). Viral infections exert their teratogenic effect on the fetus when the mother is ill in early period pregnancy - usually not later than the first 3 months.

Syphilis and tuberculosis are now credited with a much more modest teratogenic role than in older times.

Of the protozoal diseases of the mother and fetus, toxoplasmosis, which leads to severe inflammatory fetopathy in the form of hydrocephalus and other lesions of the central nervous system in combination with chorioretinitis, is currently being paid exceptionally much attention, especially in the area yellow spot retina, microphthalmia, colobomas and other eye anomalies.

Maternal malnutrition during pregnancy with a large deficiency of vitamins, especially vitamin A and folic acid, has a strong teratogenic effect up to complete resorption of the embryo, the development of hydrocephalus, and various eye deformities.

The combined influence of hereditary and environmental factors, including social ones, plays a very large teratogenic role, since many hereditary anomalies can be realized only under the influence of certain environmental conditions - "a kind of interference of hereditary and environmental moments" (S.N. Davidenkov). The significance of such "interference" is confirmed, in particular, by the available comparative observations on the development and incidence of genotypically identical identical and genotypically different fraternal twins.

In each individual case, it is often very difficult or impossible to determine what factors (hereditary or environmental) determine the development of this congenital anomaly, especially if the doctor does not have sufficient genealogical data, information about the family distribution of the anomaly, the presence or absence of consanguinity of parents, about the type of hereditary transmission of the anomaly (dominant, recessive, sex-linked) and other medical genetic data.

Prevention of congenital and hereditary diseases based on deep knowledge contemporary problems heredity, in relation to a number of diseases, it is already possible at the present time by giving right advice those entering into marriage, especially advice to parents who have a child with one or another malformation, regarding the degree of probability of the appearance of the same defect in the subsequent birth of other children in the family and the advisability of further childbearing.

Treatment of congenital and hereditary anomalies is possible in many cases with the help of appropriate surgical interventions that eliminate the existing anatomical and functional deficiency.

In a number of other cases, it is possible to prevent the development of an eye disease, and sometimes save the very life of a child with the early use of certain therapeutic measures. These include, for example, early replacement blood transfusion in hereditary erythroblastoses that have arisen on the basis of Rh incompatibility; early appointment of the correct diet for galactosemia and diabetes, the appointment of insulin in diabetes; appointment of specific effective drugs protein in the treatment of hemophilia; the appointment of other drugs and hormones in the treatment of other anomalies. Early appointment of an appropriate diet for galactosemia, diet and insulin for diabetes mellitus can not only prevent, but also lead to the regression of an already existing initial cataract.

Parents should indicate the need to protect children who are hereditarily predisposed to a particular anomaly from the effects of specific provoking environmental factors in cases where these factors are known.

Ophthalmologists are aware of hundreds of eye diseases. Each such disease timely treatment may cause loss of vision.

Most eye diseases are caused by inflammation. The inflammatory process, appearing on the periphery, if left untreated, can go deeper into the eye and cause serious complications.

Modern medicine is developing very quickly, so the list of incurable human diseases associated with the eyes is shrinking every year. But this does not mean at all that when symptoms of ophthalmic diseases appear, you can delay a visit to the doctor. The later the patient turns to ophthalmologists, the less they have the opportunity to help him.

Symptoms of eye diseases in humans

Despite the wide variety of eye diseases, most of them have similar symptoms. In particular, patients seeking medical help describe the following symptoms:

This is not a complete list of symptoms of eye diseases. However, the symptoms listed above are observed in almost all eye diseases.

Types of diseases of the organs of vision

Since there are a lot of pathologies affecting the organs of vision, for ease of diagnosis, doctors divided them into several types. This division greatly facilitates the selection of effective treatment.

Taking into account the affected structures of the organs of vision, eye pathologies are divided into the following types:

It is worth noting that the most common diseases are inflammatory in nature: barley, blepharitis and conjunctivitis. In second place in terms of frequency of detection are diseases that change visual acuity: myopia, farsightedness, astigmatism and presbyopia.

The most dangerous are glaucoma, cataracts and retinal dystrophy. These pathologies often cause total loss vision.

Retinal diseases

The retina is called the inner shell. This is a very important element of the eyeball, because it is responsible for the formation of an image, which is then transmitted to the brain.

The main symptom indicating the presence of retinal diseases is a sharp decrease in visual acuity. Naturally, it is impossible to make an accurate diagnosis based on this symptom alone, so doctors carefully examine the patient.

The most common pathologies of the retina are:

The risk of retinal pathologies is very high. Therefore, when the symptoms described above appear, you should not postpone a visit to an ophthalmologist.

The eyelids protect the eyeballs from external influences. One tenth of all eye diseases occur in the eyelids. The most common of them are:

The tear ducts are located in close proximity to the eyelids. Therefore, in ophthalmology, these diseases are combined into one group.

It should be noted that, unlike diseases of the eyelids, pathologies of the tear-producing apparatus are rare, but doctors give them Special attention as they can cause very serious complications.

At the same time, diseases of the lacrimal apparatus are quite common. They are mainly related with impaired patency of the lacrimal canals.

As a rule, diseases of the lacrimal organs are poorly amenable to therapeutic treatment Therefore, doctors often solve problems with surgical methods.

Sclera and cornea

The sclera and cornea are closely related. The first is a protective shell of collagen and connective tissue white color. The second is an arcuate transparent shell, providing penetration and focusing of light on the retina. The sclera on the front, open part of the eye passes into the cornea.

Diseases of the cornea and sclera occur in 25% of patients visiting ophthalmological clinics.

The most common diseases of the sclera include:

Treatment of these eye diseases can be both therapeutic and surgical. At surgical treatment of the cornea, doctors often resort to keratoprosthetics.

optic nerve

All diseases affecting the optic nerve can be divided into 3 main groups:

• Neuritis.
• Vascular diseases.
• Degenerative.

Neuritis can be descending and ascending. In the first case, inflammation can be localized in any part of the optic nerve. In the second case, the inflammatory process first affects the intraocular, and then the intraorbital part of the nerve.

With any disease of the optic nerve, there is a significant decrease in central vision and a narrowing of the field of view.

Neuropathy is a degenerative damage to the optic nerve. It may occur when coronary disease and exposure to toxic substances. The main symptom of this pathology is the loss of color perception. Besides, the patient may complain of pain while moving the eyeballs.

To treat diseases that affect the optic nerve, doctors use steroid hormones and non-steroidal anti-inflammatory drugs, orbital decompression, and surgery.

oculomotor apparatus

These diseases are detected quite simply. The fact is that patients with such pathologies have an incorrect position of the eyeballs, a violation in the mobility of the eyes, their divergence and convergence.

Most often, ophthalmologists are faced with the following lesions of the oculomotor apparatus:

Still treatment x diseases is mainly reduced to the fight with major diseases and special exercises that allow you to normalize muscle function.

By the way, the names of eye diseases in people most fully reflect the essence of the pathologies of the oculomotor apparatus, since they accurately indicate the source of the problem.

List of human hereditary diseases with description

Many diseases of the organs of vision in humans are of a genetic nature. That is, they are hereditary. Some of these diseases are congenital, while others develop after birth. under the influence of various factors.

cat eye syndrome

The disease is expressed in pathological change iris and. The reason for the changes lies in mutations affecting the 22nd chromosome. In patients with cat's eye syndrome, there is a partial deformation of the iris or its complete absence.

Due to the deformity, the pupil in these patients is often vertically elongated and very similar to a cat's eye. Because of this, the disease got its name.

Often, cat's eye syndrome is combined with other developmental pathologies: underdevelopment of the reproductive system, congenital heart disease, defects in the formation of the rectum, etc.

If the symptoms of such disorders are moderate, then after surgical treatment the patient can live relatively normally. But when there are serious violations internal organs the patient dies.

color blindness

This congenital pathology is expressed in a violation of the perception of color. A patient with color blindness is unable to perceive certain colors normally. Usually these are shades of green and red. The disease is most often caused by an anomaly in the development of receptors in the eyes.

The disease is transmitted through the maternal line, but manifests itself mainly in men. The latter suffer from color blindness 20 times more often than women.

Hypoplasia of the optic nerve

Another congenital disease. It is manifested by the small size of the visual disc. In a severe form of pathology, the patient may completely lack optic nerve fibers.

The disease has the following symptoms:

• Weak vision.
• Weakening of the oculomotor apparatus.
• The presence of blind spots in the field of vision.
• Problems with color perception.
• Impaired motor skills of the pupil.

Often, the weakening of the muscles of the eyeball with hypoplasia causes strabismus.

If the disease is detected in a child, then it can be partially cured. In an adult, it cannot be corrected.

Cataract treatment

The lens is of great importance for vision, despite its miniature size. Its clouding leads to a serious decrease in vision.

Cataract is called a cataract. This disease can be acquired or congenital. In addition, doctors divide it according to the type of course into age-related, toxic, systemic and traumatic.

A patient with a cataract thinks that he is healthy, because the disease does not manifest itself in any way or its manifestations are very insignificant. And when bright symptoms of pathology appear, then conservative treatment does not give the desired effect. Therefore, cataract prevention is very important. expressed in the annual examination by an ophthalmologist.

Until the middle of the last century, cataract was considered an incurable disease. All the doctors could do was remove the clouded lens. Everything changed in 1949, when the Englishman Harold Ridley performed the first operation to install an artificial lens made of polymethyl acrylate. Since then, cataracts have ceased to be a sentence.

In modern ophthalmic clinics, doctors can choose which treatment to apply to a patient with a cataract.

Attention, only TODAY!

Many parents with eye problems worry that their children will develop vision problems as well. Some eye diseases are actually hereditary, but sometimes they can be prevented. This article will discuss the types of hereditary eye diseases and the causes of their occurrence.

If we turn to statistics, we can see that almost ten percent of all diseases are inherited at the genetic level. As mentioned above, this also includes diseases. Many of them are asymptomatic and do not affect visual acuity, so not in all cases it can even be suspected that a person has any problems in the visual system.

Causes of congenital eye diseases

It is worth noting that the main cause of pathologies of the organs of vision is a gene mutation that provokes the development of hereditary eye diseases. What other reasons provoke the appearance of eye diseases in a child? So, among the main reasons are:

1. Pathologies of tissue development during pregnancy;
2. Hormonal disorders;
3. Incompatibility of Rh factors of mother and fetus;
4. The age of the parents (most often, organ pathologies occur in the children of those parents who decide to have a child before the age of 16 or after 40);
5. Chromosome mutations;
6. Difficult or pathological childbirth;
7. Incest, which often leads to the development of fetal anomalies.
8. Influence of environmental factors, among which are: radiation, infectious and viral diseases suffered during pregnancy, alcohol abuse and smoking of the expectant mother, etc.

What eye diseases are inherited

Here it is worth noting right away that hereditary eye diseases are divided into three large groups:

1. Congenital pathologies(in this case, surgical treatment is prescribed);
2. Small defects (as a rule, they do not require special treatment);
3. Anomalies of the eyes associated with diseases of other organs.

List of major eye diseases that are inherited:

1. Color blindness (a person does not distinguish colors);
2. Microphthalmos (disproportionately small in humans);
3. Anophthalmos (absence of one or two eyeballs);

4. Anomalies of the cornea - for example, a change in its shape (keratoconus) or its congenital clouding.
5. Glaucoma (increased intraocular pressure);
6. Cataract (clouding of the lens of the eye);
7. Anomalies in the structure of the eyelids.
8. Myopia (myopia) is an eye disease in which a person sees poorly in the distance, but sees well near.
9. Nystagmus (involuntary movements of the eyeballs).

If future parents have any eye diseases, they should consult a geneticist for advice. The specialist will tell you what preventive and therapeutic measures parents will need to take.