Causes and treatment of coloboma of the eye. Retinal coloboma (chorioretinal coloboma) Optic disc coloboma in children reviews

One of the congenital anomalies in the development of the organs of vision is coloboma. It develops for many reasons. With this pathology in the disk optic nerve there is a recess. It is filled with retinal cells. The disease is detected in 75 out of 1000 newborns. It does not progress over time.

By 4-5 weeks of intrauterine development of the fetus, the embryonic fissure closes. With abnormal, incomplete comparison of its edges, a defect in the membranes of the eye and a congenital coloboma of the optic nerve head develop. The defect can be localized in different parts of the eye: the iris and, on and the optic nerve.

The disease can be transmitted in an autosomal dominant manner or be sporadic. In some cases, mothers of children who have an anomaly have taken cocaine during pregnancy or have had an intrauterine cytomegalovirus infection.

Symptoms of an optic disc coloboma

Optic nerve coloboma can be located both in one eye and on both eyeballs. It is revealed on time. The ophthalmologist sees a slightly enlarged optic disc, on which there is a rounded depression of the silvery white color with clear boundaries. The excavation zone in most cases is displaced downwards. Often there is no neuroretinal margin. In this case, the top edge is not changed. The reason for the decentralization of the excavation is the position of the fissure in the embryo relative to the primitive disk. The defect may extend into the lower part of the optic disc. In this case, it captures the choroid and the adjacent retina for a considerable distance.

Symptoms of an optic nerve coloboma include:

  • visual acuity is preserved or corresponds to the correct light projection;
  • increase in size;
  • large central or centrocecal.

If the coloboma of the optic disc develops simultaneously with defects in the choroid and retina, visual fields may be impaired to varying degrees, depending on the location of the defects. The following anomalies are also noted:

  • posterior lenticonus;
  • fossa of the optic disc;
  • posterior embryotoxon;
  • remnants of the hyaloid artery.

In patients suffering from optic nerve coloboma, after 20 years, a complication such as non-rhegmatogenous often occurs. At the age of 45-50 years, they develop a periparillar neovascular subretinal membrane. The origin of both complications has not been established.

Diagnostics

Coloboma is characterized by such ophthalmic symptoms:

  • myopic;
  • high myopia.

When ophthalmoscopy of the optic nerve in patients suffering from coloboma, there is a contraction phenomenon. It is explained by the presence of oriented concentric smooth muscle cells in the distal part of the defect, which were identified during the histological examination.

When performing computed tomography and B-scan, a deep defect is found in the posterior zone of the eye. Also, at the site of contact of the optic nerve with a slight increase in the diameter of the optic nerve. MRI shows signs of ipsilateral hypoplasia of the intracranial segment of the optic nerve.

At the same time, the ERG amplitude is most often preserved in patients. If the optic nerve coloboma is large and a significant part of the retina is involved in the pathological process, the presence of anomalies is determined during the ERG. There is also a permanent decrease in the amplitude of the P100 component, a lengthening of the latency, and a change in the configuration of the response. VEPs may remain normal during the reaction to the outbreak, but sometimes there is a decrease in the amplitude of P100 and a prolongation of the latency of this component.

Coloboma in children often occurs simultaneously with such developmental anomalies:

  • focal hypoplasia of the skin of Goltz;
  • Goldenhar's syndrome (oculoauriculovertebral dysplasia);
  • epidermal nevus syndrome;
  • Down syndrome, Edwards, Walker-Warburg.

Occasionally, an optic nerve coloboma is found in patients with basal encephalocele. 11% of patients diagnosed with optic nerve coloboma have CHARGE syndrome. Its manifestations are the following symptoms:

  • heart disease;
  • growth retardation;
  • genital hypoplasia;
  • hypotrophy;
  • deafness.

The COACH syndrome consists of symptoms such as optic disc coloboma, ataxia, and other manifestations of cerebellar pathology. It is necessary to carry out differential diagnosis coloboma and aurora borealis syndrome. If we are talking about chorioretinal coloboma, atrophic foci that are associated with toxoplasma or other diseases of the lower section should be excluded. Their difference is the staining of foci of atrophy located in the central zone.

Chorioretinal coloboma is characterized by the presence of visual field defects corresponding to the localization of the defect, and in the presence of optic nerve coloboma, visual acuity is reduced. Due to the rupture of the membrane lining the area of ​​the chorioretinal coloboma, a complication such as retinal detachment develops.

Treatment

Currently, there are no methods for the treatment of optic nerve coloboma. If retinal detachment develops, surgical interventions are performed:

  • plugging with gas;
  • restrictive photocoagulation in the marginal zone of the gap.

If choroidal neovascularization has occurred, then photocoagulation of the neovascular membrane is performed.

Moscow clinics

Below we give the TOP-3 ophthalmological clinics in Moscow, where coloboma of the optic nerve head is treated.

The rudiments of the eye are laid at the earliest stages of embryo development: by the third week, two eye bubbles can be seen at the head end of the neural tube.

The process of formation of the organs of vision, long and complex, continues throughout pregnancy, and does not always end at the time of the birth of the child, often capturing the first weeks of his life.

Not everything always goes according to plan: adverse external factors, genetic defects, accidental breakdowns lead to congenital developmental defects. These include coloboma of the eye.

What is a coloboma?

Coloboma of the eye - the absence of tissue sections of various parts of the eye and its appendages, most often occurring during fetal development.

It leads to improper closure of the slit of the eye cup, which occurs at 4-5 weeks of fetal development.

traumatic coloboma is much less common congenital. It is usually caused by mechanical damage. eyeball.

In some cases, it becomes the result of an operation in which the excision of the tissues of the eye affected by the tumor or necrotic process was performed.

Types and types of coloboma

It is divided into the following types:

  1. Iris coloboma- the most common type of this defect. With its congenital form, the pupil usually has the shape of a drop or a keyhole. The functions of the muscles of the pupil are preserved, it reacts to light, therefore, with a small defect, vision may not be impaired. With an acquired coloboma, the pupillary sphincter most often does not work.
  2. Choroidal coloboma- the absence of part of the choroid of the eye.
  3. Ciliary body coloboma impairs the functioning of the accommodative apparatus and leads to visual impairment.
  4. Coloboma of the lens and optic nerve occurs much less frequently than other forms. It negatively affects vision, accompanied by strabismus.
  5. Coloboma eyelid usually affects the lower eyelid, with a significant defect, the eyeball can dry out, which is fraught with a corneal ulcer and other secondary diseases.

Different types of congenital coloboma often occur simultaneously. She can be like unilateral, and bilateral.

If a slit-like defect of the iris and other tissues of the eye is located in its lower part, from the side of the nose, then a coloboma is called typical, if its localization is different - atypical.

Spreading

It is one of the rare or orphan defects and occurs in one newborn in ten thousand. The disease is not associated with race and age of the mother.

The reasons

The cause of traumatic coloboma, as its name implies, is damage to the tissues of the eye. Congenital coloboma can develop due to the reasons described below.

Systemic malformations

With Down, Patau and Edwards syndromes, partial trisomies, basal encephalocele, focal skin hypoplasia, as well as syndromes under the abbreviations CHARGE and COACH and some others, optic nerve coloboma is most common.

Adverse effects on the embryo

The risk of having babies with coloboma and other facial deformities such as cleft palate, cleft lip, hypertelorism is much higher in mothers who:

  • on the early dates pregnancy used alcohol, narcotic substances (especially cocaine, which has a pronounced teratogenic effect);
  • were infected cytomegalovirus infection resulting in intrauterine infection of the fetus.

genetic mutation

Calaboma can develop as a result of a genetic mutation inherited from parents or arising de novo.

Hereditary coloboma is transmitted in an autosomal dominant manner, that is, one copy of the damaged gene is enough to develop the disease.

But, since the size of the defect in different people can vary, the sick parent sometimes does not realize that he has a coloboma: a small notch in the tissues of the eye is not noticeable without examination and has no symptoms.

Extremely rare coloboma with X-linked type of inheritance. Her gene is transmitted in the same way as the gene for hemophilia and other diseases associated with the female chromosome: an ill father passes the defect on to a healthy carrier daughter, whose sons, in turn, are 50% likely to be ill.

Symptoms and methods of diagnosis

Iris coloboma is a disease that is usually visible to the naked eye, just like eyelid defects. But its other varieties may not be so obvious, masquerading as other eye diseases. What are the symptoms of a coloboma?

  1. In the case of damage to the iris, a cosmetic defect in the form of a deformed pupil in many cases remains the only symptom; with its small area, the functions of the organ of vision do not suffer. But with a large defect affecting the sphincter of the pupil, the patient's vision deteriorates significantly in bright light and in the dark.
  2. With coloboma of the choroid, the nutrition of the retina is disturbed, which leads to scotoma - a "blind spot" that captures part of the visual field. Its dimensions are related to the dimensions of the missing tissue area.
  3. The coloboma of the ciliary body is manifested by disturbances of accommodation, farsightedness - it is easier for the patient to focus on distant objects, and not on those that are close.
  4. With optic nerve coloboma, scotoma is observed, as well as accommodation disturbances and strabismus.
  5. A coloboma of the lens gives symptoms similar to astigmatism due to the loss of the natural spherical shape of the lens.

To detect defects in the deep tissues of the eye, its complex examination is necessary, including ophthalmoscopy, refractometry and biomicroscopy.

Differential diagnosis is carried out with atrophic foci resulting from toxoplasmosis infection, degenerative myopia.

Treatment

The only way to treat coloboma of the eye is surgical. It is impossible to eliminate a tissue defect with the help of drugs or physiotherapy.

However, the operation is not required in all cases: with a small coloboma of the iris, which does not affect the patient's vision, there is no need to expose the eye to traumatic and complex external intervention.

In order for the deformed pupil not to attract attention, colored contact lenses are often used, with mild photophobia - dark glasses in clear weather.

In cases where the dimensions of the iris cleft are large enough, its edges are excised, after which they are pulled together and sutured to form a pupil of normal size.

The coloboma of the eyelid is treated in a similar way. After a fairly simple operation, the protective function of the eyelid is fully restored.

With a coloboma of the lens, as with other defects, it is replaced with an artificial lens. In terms of their refractive properties, modern implants are in no way inferior to the lens of a healthy eye, and some of them are capable of accommodation.

Coloboma of the visual eye and choroid is not treated: it is impossible to restore the nerve and vascular tissues of the eye affected by these forms.

In cases where coloboma is combined with other eye diseases or affects their immediate function, treatment should be comprehensive.

If dry eye syndrome occurs against the background of a coloboma of the eyelid, the patient needs tear drops, with glaucoma it is necessary to take drugs that reduce intraocular pressure, with reduced vision, the specialist prescribes glasses or lenses with the appropriate number of diopters, and with retinal detachment, a photocoagulation procedure around the coloboma is mandatory.

As maintenance therapy, it is permissible to use multivitamin complexes, lutein, herbs that have a beneficial effect on the condition of the eyes, such as blueberry leaves, eyebright, chamomile, linden.

Herbal remedies are practically safe, but in the case of coloboma, they cannot radically change the patient's condition.

Prevention

Preventive measures against congenital coloboma mainly refer to the behavior of the expectant mother during pregnancy. Refusal of teratogenic substances significantly reduces the likelihood of its development in the fetus, both as an independent disease and as part of a complex malformation. However, this does not insure against hereditary coloboma or random mutation.

Forecast

The prognosis for coloboma is favorable, in itself it does not threaten the health and life of the patient. Other defects that are observed in a significant proportion of people suffering from coloboma can be dangerous.

Conclusion

Summing up, we can say the following:

  1. Coloboma is the absence of part of the tissues resulting from mechanical damage to the eye or congenital malformation.
  2. Congenital coloboma is very often accompanied by other defects of the eyes and face.
  3. The only way to treat it is surgery, but treatment is not always necessary.
  4. The disease can adversely affect vision, but is not life-threatening.

The human body is harmonious and holistic, everything in it is interconnected and provided for certain purposes, performs its functions. However, no one is immune from the fact that it is in his body that some changes occur, sometimes in a negative direction. The organs of vision, which have an iris, are very vulnerable to various influences - the same one that gives color to the eyes. However, it is needed not only for beauty, but also for vision. One of the common anomalies that can affect how well a person sees is iris coloboma.

Iris: its functions

The iris of the eye is that part of the organ of vision that everyone pays attention to when communicating with another person. It is she who is responsible for what color the eyes of a person have, since it contains a certain shade of pigment cells. In the entire eye system, it is located directly between the anterior chamber and the lens, it is an element of the choroid. The main function of the iris is to control the flow of light rays, which, reaching the retina, enable a person to see. Its other function is to protect the very retina from excessive overexposure. Thus, the quality of vision will largely depend on how correctly it works.

The shape of the iris is round, with a smooth hole in the middle - the pupil. The shell consists of two groups of muscles, one of which is located around the pupil and causes it to contract (sphincter), and other muscles (dialators) are located throughout the iris and help the pupil. Muscles react to light and, depending on the amount of light, make the pupil either enlarge or contract. The more light, the more the pupil constricts.

What is a coloboma?

The mysterious word "coloboma" means a defect in any shell of the eye, in which part of this shell is missing. Usually such a violation is congenital, but there are also acquired forms.

On a note! The term "coloboma" appeared at the beginningXIX century, he was introduced into medicine and was the first to use the scientist Walter. From Greek, the term is translated as the missing element or the missing part.

The congenital form of coloboma is formed in the unborn child during its development in the womb. The eyes of the embryo begin to develop as early as the second week after conception. Next, the eye cup is formed, in the lower part of which at first there is a small gap, which closes over time. However, the iris develops only at 4-5 months of pregnancy. If a person is destined to face a coloboma, then it begins to form just at this time and is associated with a violation of the processes of closing the embryonic gap.

By itself, coloboma is either a complex defect associated with disorders immediately in the area of ​​the retina, choroid, and lens, etc., or is characterized by the presence of only a slight violation of the edge of the pupil's circumference.

On a note! Congenital coloboma usually occurs in one in 6,000 people. This is a fairly well-known form of eye anomalies.

Table. Colobom types.

Type ofInformation
congenital or acquired It differs depending on the cause that caused this anomaly.
Complete or incomplete It turns out that with coloboma, layers of the iris can be affected in different quantities - either all at once, or partially. Depending on this, the type of coloboma in a particular case will be determined.
Single sided or double sided In the first case, one eye is affected, in the second - both at once.
atypical and typical A typical coloboma is usually localized in the lower nasal part of the iris, but other locations give the right to call the anomaly atypical.

Also, the coloboma itself can be different. Distinguish coloboma of the choroid, lens, accommodation apparatus, eyelids or optic nerves.

Symptoms

Iris coloboma is not as difficult to recognize as it seems. This part of the eye undergoes quite strong changes - a defect visible to the eye is formed on it, resembling a keyhole or pear in shape and usually located in the lower part of the iris. The edge of the pupil can be intact if the coloboma does not extend beyond the iris. The eye reacts to light in the same way, its functions as such are not disturbed. But the eye cannot fully regulate the flow of light rays entering the retina. Because of this the quality of vision with coloboma is still reduced when compared with a healthy eye. If the defect appeared on both sides, then the patient may have nystagmus.

On a note! With coloboma, it is noted special kind blindness of the eye, which is not blindness in the usual sense of the word.

Most often, a unilateral coloboma is observed, but sometimes the defect can be seen in both eyes. If the pathology is congenital, then the pupil may contract as usual, but with its acquired form, the functions of the sphincter of the pupil are violated. With acquired coloboma, the pupil is unable to respond to light.

One of the dangers of a coloboma is getting psychological trauma. Children are especially susceptible to this. can acquire an unusual shape - this is a cosmetic defect that confuses many.

Causes of pathology

There are not many reasons for colobomas, they can be divided into groups depending on the type of defect. So, congenital coloboma is formed due to violations of the developmental processes of the human embryo. Acquired appears as a result of injury, the development of a number of necrosis or due to operations.

Usually coloboma exists on its own, but in some cases other pathologies are also observed with it - for example, with the so-called Charge syndrome, there are also heart defects, hearing defects, and developmental delay. In Ecardi syndrome, not only iris coloboma is observed, but also optic nerve hypoplasia, choroidal coloboma, etc.

Diagnosis of pathology

Despite the fact that it is quite easy to identify an iris coloboma by simply examining the eyes, doctors still conduct a number of examinations. To begin with, of course, the usual external examination and taking the patient's history. Next, a study is made of how the eye reacts to light rays. Biomicroscopy, MRI of the brain may also be needed.

On a note! An experienced physician can easily determine whether a coloboma is congenital or acquired.

Only after a complete examination and determination of the nature of the pathology, the ophthalmologist will decide on the need for an operation to correct this defect. In some cases, it is enough to simply use simpler correction methods.

Treatment of pathology

If the coloboma is congenital and noted in a child, then no emergency treatment measures are usually taken. To begin with, the doctor will monitor the condition of the baby's eyes, conduct a series of studies - all of them are carried out during the first 6 months after the baby is born. It may be necessary to take preventive measures.

Only six months later, the doctor will be able to decide whether there are indications for an operation to eliminate the coloboma. For example, there is no point in surgical intervention if the coloboma is small and does not affect the health of the eyes and the quality of vision.

Contact lenses are used to reduce the amount of light entering through the pupil to the iris and irritating the eye. dark colors with a transparent center or glasses with a grid. These measures will help avoid blindness. The operation will be carried out only in case of special indications - such as a serious visual impairment.

On a note! Exist different types operations to correct such a defect as a coloboma. Among them, there are both those that cause quite serious damage to the eye, and those that are considered less traumatic. But the doctor will most likely choose the technique, depending on certain indications.

Of great importance in the treatment of coloboma by surgery is the choice of a suitable medical institution. It is worth contacting exactly the clinic where experienced doctors work, who are able not only to accurately diagnose and determine the condition of the eyes, but also to perform the operation correctly and accurately if necessary.

Video - Iris plastic surgery

How to protect your eyes from injury?

One of the most common causes of iris colobomas is eye injury. No one is immune from this, but you can reduce the risk of injury by following a number of recommendations. Let's explore how you can try to reduce the risk of damage to the eyeball.

Step 1. First you need to go to the nearest optician and buy high-quality sunglasses there. They must not only protect the eyes from ultraviolet radiation, but also be durable. It is best to buy glasses made of high-quality plastic, as if glass glasses are broken, very small fragments can get into your eyes.

Step 2 Be careful while driving - this will help reduce the risk of getting into an accident and getting injured. varying degrees gravity.

Step 3 It is forbidden to look at objects that reflect the sun's rays for a long time. Also, do not look at the sun itself.

Step 4 When working with construction tools, gardening, or any other activity that poses a risk to the eyes, it is important to always wear protective goggles. The neglect of safety precautions has not yet brought anyone to good.

Step 5 When swimming in the pool, and even more so in open waters, it is important to wear swimming goggles. They will not let anything get into your eyes and injure them.

Step 6 Rubbing your eyes is prohibited. It is especially important not to touch the organs of vision on the go, in a moving vehicle. Girls with long manicures should be very careful.

Iris coloboma is not the worst eye disease. It is quite possible to live with it and not worry that the pathology will develop or the eyes will begin to see worse. Rather, it will be more concerned with the aesthetic aspect. However, whether to correct the defect or leave everything as it is, you need to decide together with the ophthalmologist.

abnormal development visual organ, in which part of the tissues is missing, is called the eyelid coloboma. You can recognize the disease visually, on upper eyelid a torn spot forms along the lash line irregular shape, which causes a cosmetic defect. Such a process can affect various parts of the eye: external and internal. Most often, a congenital form of pathology is diagnosed, but 2% of cases fall on the formation of a coloboma as a result of an injury. Methods of diagnosis and treatment depend primarily on the localization of the disease. If the disease affects visual function, an operative method is prescribed.

Coloboma is considered one of the most common pathologies in the field of ophthalmology. Most often, it occurs in combination with other anomalies of uterine development, for example, with a cleft lip.

Possible reasons

In most cases, congenital coloboma of the eye is observed. It is formed at the intrauterine level. Namely, at 4-5 weeks of pregnancy, when the slit opening of the eye canals closes. The first changes are diagnosed when a woman undergoes an ultrasound scan. In newborns, other defects are additionally observed. All parts of the body are susceptible to damage. The situation can be aggravated by increased intraocular pressure and microophthalmos. The following reasons can provoke an ailment:

  • genetic diseases of parents;
  • basal form of encephalocele;
  • focal hypoplasia of the skin;
  • cytomegalovirus infection;
  • smoking, alcohol and drug use in early pregnancy.
Pathology occurs against the background of advanced infections.

In practice, acquired forms of the disease are known, the causes of which lie in the violation of the integrity of parts of the visual organ. They develop as a result of a negative effect on the structure of the eye and mechanical damage that can occur during surgery. Optic disc coloboma may result from a complicated infectious process. External mechanical damage to the eyelids or the membrane of the eye leads to outward signs ailment.

Classification

There are several types of the disease, depending on the localization of the disease. When diagnosing, one-sided and two-sided types are determined, more often the second one develops. There are also typical nature of the pathology and atypical. In the first, a coloboma is formed in the lower part of the visual organ, the second is characterized by different localization. Depending on the focus of damage, the following types of ailment are distinguished:

VarietyDescription
Coloboma of the irisThe most common type, accounting for about 65% of all cases, while changing the shape of the pupil
Choroidal or choroidal colobomaVisually imperceptible form, but affecting the functioning of the organ
Ciliary body colobomaDysfunction of the accommodative apparatus occurs
Violation of the integrity of the upper tissues
Coloboma of the lensRare, causes eye dysfunction
Optic nerve colobomaThe rarest type of pathology, characterized by the absence of an organ or part of it

Symptoms


Pathology has visual defects.

Symptoms of the disease depend on the localization of the process. Coloboma of the iris and eyelids are visible visually, therefore external symptoms not difficult to install. However, minor structural disorders in a child and an adult may not be noticeable, and external defects in the lens and optic disc generally require specialized diagnostics. The holistic clinical picture depends on the type of pathology, more about this in the table:

Even if coloboma does not cause alarming symptoms, further diagnosis is needed. Often this process is the basis for the development dangerous disease leading to total loss vision.

Diagnostic methods


Hardware diagnostics with high accuracy to establish the condition of the inner part of the eye.

You can determine the disease visually. However, not all types of the disease have external manifestations, therefore, specialized diagnostics are required. It is carried out by an ophthalmologist, sometimes a consultation with a neurosurgeon is required. If the disease is suspected in a small child, the initial examination is carried out by a neonatologist or pediatrician. The complete clinical picture is determined using the following procedures:

  • Biomicroscopy. Inspection of the structural components of the eye organ using a slit lamp.
  • Ophthalmoscopy. Allows you to examine the fundus, identify traces of the choroid in the form of light areas of the retina.
  • Additional research methods: MRI of the brain and ultrasound of the vessels.

An eye coloboma is a defect in which a fragment of any of its structural parts (shell or tissue) is missing. Most often, this anomaly is congenital, but an acquired form is also possible, appearing as a result of injuries and pathological processes. Most often (1: 6000) there is a congenital coloboma of the iris.

Coloboma and heterochromia (different pigmentation of the eyes) are quite rare pathologies of the visual organs.

Classification of forms of the disease

According to the time of occurrence, the pathology is divided into congenital and acquired. congenital form occurs due to genetic abnormalities or exposure to harmful substances during fetal development. Happens due to closure palpebral fissure and often accompanied by other disorders. The defect affects all structures of the eye - from the eyelid to the retina and optic nerve.

Acquired coloboma is not that common. It can occur due to injuries and as a result of surgical intervention when removing damaged tissues and membranes.

There are several types, depending on the area affected by the defect:

With a complete coloboma, all of the above elements are affected. With partial - only one or several. The bilateral type of the disease captures both eyes.

Main reasons

Cause of acquired (traumatic) form is mechanical damage visual organ. The congenital form has a number of different causes:

  • Systemic developmental problems: Edwards, Down and Patau syndrome, with encephalitis and others.
  • Negative effects on the embryo and fetus. The use of alcohol or other drugs by the mother, infection with viruses, as well as exposure to radiation and toxic substances significantly increase the risk of pathology in newborns.
  • Mutations of genes - both hereditary and newly formed.

Symptoms of the disease

With congenital coloboma of the iris, there is a pronounced cosmetic defect. The patient's pupil does not have the correct round shape, but resembles a keyhole, pear or triangle. Visual acuity decreases slightly or does not decrease at all. A serious problem arises with the regulation of the amount of light entering the retina and light perception.

With extensive damage to the choroid, dark areas appear before the eyes of a person.

Splitting of the optic nerve affects the reduction in visual acuity in different ways. If the form of the coloboma is isolated, deviations are often not observed. If the defect is combined with the splitting of other elements of the eyeball, there is a decrease in vision up to complete blindness. There is a bifurcation of the picture, dizziness, the ability to binocular vision is impaired. Clinical picture often similar to astigmatism.

The isolated form of retinal coloboma is usually asymptomatic. Patients start complaining only when secondary complications are detected (dark spots before the eyes) caused by retinal detachment and its breaks.

With a defect in the lens, its refractive power suffers and symptoms of astigmatism appear. Eyelid coloboma, in addition to an aesthetic defect, can cause injury, drying out and inflammation of the cornea of ​​​​the eye, and also contribute to infection with conjunctivitis.

Ciliary body coloboma causes the patient has problems with accommodation and binocular vision.

Diagnosis of coloboma

The disease, depending on the form, is diagnosed various methods. Coloboma of the iris is determined already with a superficial visual examination of the eye (pear-shaped pupil). If ultrasound biomicroscopy of the congenital form of the disease is performed, there is a decrease in length and an increase in width ciliary processes. The structure of the zinn ligament is fuzzy, the fibers are arranged randomly, which indicates the underdevelopment of this element. Visiometry measures how much vision has decreased.

If the optic nerve is damaged, using the method of ophthalmoscopy, you can notice its slight increase in diameter. Ultrasound and CT scan help to see the defects located on the back of the eye. Histological examination makes it possible to detect smooth muscle fibers with a concentric orientation.

Choroidal coloboma manifests itself in the form of white formations with scalloped edges which can be detected by ophthalmoscopy. The study of visual acuity shows myopia, the level of which correlates with the size of the choroid lesion.

The pathology of the lens in the biomicroscopic study looks like a split located in the lower inner quadrant. With further progression of the disease, the equator of the lens becomes more and more deformed.

Treatment of coloboma

Medicine has not yet developed ways conservative treatment this disease.

If the defect of the iris is small, do without treatment. To avoid symptoms of blindness, the patient is limited in the amount of light flux received - it is recommended to wear special glasses with a mesh instead of lenses or darkened ones contact lenses with light centre.

In other cases, it shows different kinds surgical operations.

  • If vision is impaired, the edges of the iris are pulled together, sewn together and strengthened by a supporting frame.
  • If a nerve is damaged, a membrane complex is formed by laser coagulation.
  • Retinal detachments are treated with laser photocoagulation.
  • If the lens coloboma is very neglected, it is replaced with an intraocular lens.
  • Problems with the splitting of the eyelid are solved by blepharoplasty.

Forecasts and danger

Patients suffering from coloboma need to undergo an ophthalmological examination twice a year. Obligatory ophthalmoscopy of the fundus, visiometry and biomicroscopy. The prognosis for a full life of the patient is positive if the splitting of the membranes and other structures of the visual organ is small. Serious injuries are often complicated by a critical decrease in visual acuity up to complete blindness, which leads to a person's disability.

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