Eye coloboma: photo of appearance, causes, methods of treatment. Iris coloboma: what is it, symptoms and treatment Congenital iris coloboma

- This is a polyetiological disease, which is characterized by isolated or combined splitting of the iris, retina, choroid, optic nerve or eyelid. Common clinical manifestations of all forms of coloboma are a decrease in visual acuity, a feeling of pain in the eyes, and asthenopic complaints. Specific diagnosis depends on the type of lesion and may include external examination, visometry, ophthalmoscopy, biomicroscopy, B-mode ultrasound, CT, MRI. Conservative treatments for coloboma have not been developed. Surgical tactics depend on the form of the disease and may include peritomy, collagenoplasty, laser coagulation, vitrectomy.

General information

Coloboma is an acquired or congenital pathology organ of vision, which is manifested by complete or partial splitting of its structures. The term coloboma was introduced by Walter in 1821, translated from Greek means "missing part". The frequency of coloboma in the population is about 0.5-0.7 per 10,000 newborns. According to statistics, among all forms, iris coloboma is the most common (1: 6000). Pathology with the same frequency occurs among males and females. Congenital splitting of the choroid is one of the causes of blindness and visual impairment in childhood. The disease is most common in China (7.5:10,000), USA (2.6:10,000) and France (1.4:10,000).

The reasons

Congenital coloboma is a genetically determined disease with a predominantly autosomal dominant pattern of inheritance. Variable mutations in the PAX6 gene are associated with a large number of eye malformations, including coloboma. At the same time, it has been proven that DNA methylation abnormalities of individual histones under the influence of environmental factors lead to epigenetic changes, which can also be a trigger for this pathology. The splitting of the structures of the eyeball is a consequence of a violation of the closure of the embryonic fissure at 4-5 weeks of embryonic development. The cause of a congenital lesion may be infection of the mother with cytomegalovirus in the early stages of gestation.

Unlike other forms, iris coloboma can be inherited both in an autosomal dominant and autosomal recessive manner. The autosomal dominant type is associated with damage to the PAX6 gene with localization in the short arm of chromosome 11. The type of mutated gene in autosomal recessive transmission has not been established. When a deletion of 24-DEL, NT1353 occurs, splitting of the iris, as a rule, is combined with microphthalmia. The development of the acquired form is influenced by factors such as alcohol abuse and hormonal imbalance. Iridoretinal coloboma is formed when the SHH gene of the long arm of chromosome 7 is mutated, while chorioretinal coloboma is formed when the GDF6 8q22 or PAX6 11p13 gene is damaged. The cause of the combined splitting of the optic nerve head, retina and choroid is a mutation of the SHH gene with localization on chromosome 7q36.

Coloboma of the eyelids of acquired origin often occurs due to tissue necrosis or scarring in traumatic injuries. This pathology can also be provoked by postoperative defects against the background of iridectomy with pathological neoplasms of the iris.

Symptoms of a coloboma

From a clinical point of view, in ophthalmology, coloboma of the iris, retina, choroid, optic disc, lens and eyelids is distinguished. With the involvement of all the above structures in the pathological process, a complete coloboma develops, with a less extensive lesion - partial. Cleavage can be unilateral or affect both eyes. In a typical form, the defect is localized in the lower nasal quadrant, which is due to the topography of the optic canal fissure. Atypical coloboma is called with localization in other parts of the organ of vision. Clinical manifestations depend on the form of the disease.

With coloboma of the iris, a pronounced cosmetic defect is formed, resembling a pear or a keyhole. Against the background of a normal or slight decrease in visual acuity, patients are unable to regulate the amount of light rays reaching the retina. The result is a pathology of light perception. With the defeat of the entire thickness of the choroid, the symptomatology of scotoma joins (the appearance of blackout areas before the eyes). Bilateral coloboma leads to the development of nystagmus. The disease can occur in isolation or be one of the manifestations of Charge or Ecardi syndromes.

An isolated retinal coloboma is characterized by a latent course. Patients complain only with the development of secondary complications in the form of ruptures, accompanied by retinal detachment. The prolonged existence of pathology leads to the formation of cattle. The anomaly is clinically manifested by blackout areas before the eyes. When the lens is split, its refractive function is disturbed, which causes the formation of zones with different light refraction. Clinically, the disease is manifested by symptoms of astigmatism. Coloboma of the eyelids, as a rule, is accompanied by incomplete closure, trauma to the conjunctiva with eyelashes, and the development of erosive defects. This pathology is often complicated by secondary conjunctivitis.

Diagnosis of coloboma

Methods for diagnosing coloboma depend on the form of the disease. Coloboma of the iris is characterized by the appearance of a defect in the form of a pear or a keyhole, which are visualized during external examination. When conducting ultrasound biomicroscopy, the congenital form in most cases is accompanied by hypoplasia of the ciliary body. The ciliary processes are shorter and wider than normal. The randomness of the fibers and the fuzziness of the structure of the zinn ligament indicates its underdevelopment. The degree of decrease in visual acuity is determined by the method of visiometry.

With coloboma of the optic nerve, a slight increase in its diameter is determined by ophthalmoscopy. Rounded light depressions with clearly defined edges are visualized. Ultrasound scanning method in B-mode or CT scan(CT) can detect deep defects in the posterior pole of the eyeball. In some cases, magnetic resonance imaging (MRI) reveals hypoplasia of the intracranial optic nerve. After the age of 20, rhegmatogenous retinal detachment often develops. With progression in patients with pathological depressions in the optic nerve head, MRI signs of macular edema are determined, which often leads to rupture and retinal detachment. Histological examination reveals concentrically oriented smooth muscle fibers.

A coloboma of the choroid during ophthalmoscopy is a formation white color with scalloped edges. As a rule, the defect is localized in the lower parts of the fundus. With visometry, myopia is determined, the degree of which depends on the volume of the lesion. With biomicroscopy, the lens coloboma has the appearance of a split, which is located in the lower inner quadrant. The progression of the pathology leads to a pronounced deformation of the lens equator.

Treatment of coloboma

The tactics of treating coloboma depends on the shape and extent of the lesion. With a slight splitting of the iris and the absence of violations of the function of the organ of vision, surgical intervention is not indicated. With a decrease in visual acuity, it is necessary to perform a peritomy, followed by stitching the edges of the iris. In order to prevent further progression of coloboma, collagenoplasty is recommended. The goal of surgery is to form a collagen scaffold that prevents the progression of coloboma.

With damage to the optic nerve, laser coagulation is indicated only for patients with the formation of a subretinal neovascular membrane. Vitrectomy followed by laser coagulation of the retina is recommended when visual acuity is reduced to 0.3 diopters with concomitant macular retinal detachment. In addition, the method of treatment of chorioretinal coloboma is endodrainage through the intermediate membrane with further laser photocoagulation of the retina around the marginal zone. With a pronounced coloboma of the lens, it is necessary to remove it, followed by implantation of an intraocular lens. In turn, a defect in the form of a splitting of the eyelid is eliminated with the help of blepharoplasty.

Forecast and prevention

Specific preventive measures to prevent the development of coloboma have not been developed. For the prevention of light perception disorders in iris coloboma, the use of mesh glasses or tinted contact lenses with a transparent center is recommended. Patients with primary manifestations of this pathology should be examined by an ophthalmologist twice a year with mandatory visometry, biomicroscopy and ophthalmoscopy of the fundus. With a slight splitting of the structures of the eyeball, the prognosis for life and working capacity is favorable. An extensive lesion can be complicated by a total decrease in visual acuity up to complete blindness, which leads to the patient's disability.

Rumyantseva Anna Grigorievna

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Coloboma is a defect that affects different parts of the eye (more often it is the absence of part of the shell).

This disease usually manifests itself from birth. and often goes in conjunction with such malformations as cleft lip, but not necessarily.

With coloboma of the eye, there is damage to the tissues of the eyelids, iris, retina, lens, or optic nerve.

Reference! Usually, in different cases, the disease manifests itself in different ways: it may be the omission of one of the elements of the organ of vision or the absence of one of its parts (possibly partial), but each of these cases can be classified either as an acquired or as a congenital disease.

Causes of the disease

If we are talking about congenital coloboma - the case is in violation of the eyes of the embryo or their damage. It can happen in a row internal factors, but all of them cause improper closure of the germinal fissure in the eye cup.

As a result, the unborn child will have an abnormal eye structure.

During injury and injury healthy man may also acquire this disease, but necrotic processes in the eye will be associated exclusively with exposure external factors.

Often the cause of such a defect is unsuccessful ophthalmic surgery(in particular, the disease can occur after an iridectomy (surgery to treat glaucoma).

Symptoms of a coloboma

Depending on the part of the eye affected by the disease, the symptoms can vary greatly, but in general, any type of coloboma is characterized by such signs:

blurred vision and loss of clarity when trying to focus;
poor patient tolerance of bright lighting (in particular, due to the inability to regulate the flow of light penetrating into it with a sore eye);
violation of accommodation mechanisms;
bright manifestations of astigmatism.

For different types diseases are also characterized by their own signs and symptoms, which may not always appear or have varying degrees of severity.

Types of disease

Coloboma of the eye may present on different parts and elements of the eye, and in accordance with this, the disease will bear its name and have external manifestations characteristic of this type of ailment.

Coloboma of the iris

This is the most common type of disease in which damage to the integrity of the iris.

Note! With this disease, coloboma is usually observed in the lower part of the iris, while the defects can be either unilateral or bilateral.

Coloboma of the iris may be congenital or acquired.

And if in the first case the disease occurs due to the influence of adverse internal factors during the development of the fetus, then the acquired form is always the result of various types of eye injuries.

Choroidal coloboma

The choroid is the choroid of the eye, located mostly at the bottom of the eyeball.

Usually with this type of coloboma, retinal defects also appear., on the state of which depends on how much the patient's vision will fall.

Currently, a complete cure for this type of disease is not possible.

Coloboma of the lens

Lens coloboma appears similar to atigmatism, since with this violation there are areas with different light refraction, in the area where part of the lens is missing.

This form occurs much less frequently others and may be accompanied by strabismus.

Optic nerve coloboma

With this pathology the shape of the nerve nipple changes, and in this area one can observe the formation of a depression or a kind of recess.

In most cases, the size of the formation itself exceeds the size of the nerve.

Coloboma of the ciliary body

This is a complex disease that not only cannot be detected by direct signs, but also treatment also appears futile.

For reference! Diagnosis of this form of pathology is possible only through (laser examination of the retina). Usually, with this form, the accommodative functions of the eye are almost completely absent or significantly weakened.

Coloboma of the century

In this case, a certain part of the eyelid is missing, and on the periphery of the disease, the tissues are thinned. Sometimes with this kind of part eyelid skin can fuse with the mucous membrane of the eye.

The pathology is usually upper eyelid and can be either partial or complete. In most cases, only one eyelid is affected, although there are exceptions.

Diagnosis of coloboma

Diagnostics consists of several stages that make up a complex diagnostic complex:

First, an external examination of the eyeball is performed, after which it is performed checking the patient's visual acuity. With small defects in the form of a mild coloboma of the iris, the fall in vision is absent or insignificant in most cases. A slight decrease can be observed in congenital pathology, which also affects the choroid. If vision is sharply reduced and almost completely disappears - most likely, the patient has a coloboma of the choroid or optic disc.
In the initial diagnosis of coloboma of the choroid or optic nerve eye examination is performed, on which, with such diseases, bright spots appear that have clear boundaries. If the disease affects optic nerve- its disk can be enlarged in size, and rounded gray depressions can appear in its lower part.
Some defects of the iris and lens characteristic of coloboma can be determined by biomicroscopy. In case of a disease, the lens will have deformed contours and depressions, and if the vitreous body is affected, the specialist will see fibrous filaments of connective tissue.
Parallel going on checking eye response to light. This usually helps to establish the shape of the iris coloboma: if the reaction to light is completely absent - the disease is acquired, if the pupil expands or contracts at least slightly when light hits it, the diagnosis is “congenital iris coloboma”.
With coloboma of the choroid, an additional check of the axes of vision is performed, which helps to establish how narrowed the field of view of the patient. If the "blind" areas affect not only the periphery, but also the center of the gaze, an optic nerve coloboma is diagnosed.
Techniques such as eye scans, MRI, and CT scans can accurately locate defects if visually this is not possible.

If a congenital type of disease is suspected, in addition to examining the patient himself, an examination and examining close relatives to confirm this assumption of the origin of the disease.

A photo

Treatment of the disease

Depending on the location and nature of the disease, different methods treatments, but they are all focused on preventing the spread of the lesion to the cornea.

Medical treatment

If it is possible to establish a congenital coloboma in a newborn, vitaminized ointments and ointments-keratoprotectors(the latter serve to moisturize the cornea, which enhances its protective properties).

In parallel with this, the course of treatment includes the use of antiseptic ointments.

Important! Usually drug treatment it is used only in the case of small children, and if the sclera of the eye does not shine through it when the eyelid is closed, the surgical intervention is performed at the discretion of the parents to achieve a purely cosmetic effect.

Surgery

Surgical intervention - the only effective treatment if it is not too big.

In such cases, with a coloboma of the eyelid, its edges are cut off and sewn together in the right areas.

When indications for surgery are treatment should be carried out as soon as possible, in early age, which will avoid such consequences in the future as inversion and ptosis of the eyelids.

If, with closed eyelids, the cornea area is not completely closed by them, a tissue transplant from the patient’s body is necessary.

Introduction of non-absorbable components into the eyelid

AT last years experiments are being carried out introduction of non-absorbable components into the site of coloboma localization.

It is assumed that such substances, which are neutral and non-toxic, will allow to increase the thickness of the eyelid. without the need for surgery.

So far, this method is only being tested, and it is impossible to talk about the possibility of its wide application in the near future.

Regardless of the type and severity of the disease, timely operation always allows to achieve the desired cosmetic effect and prevent vision problems in the patient.

Useful video

In the video you will see the basal coloboma of the iris:

Coloboma Treatment Predictions and Prevention Measures

How successful the treatment of coloboma will be, mainly depends on timely and correct diagnosis, which will prevent the development of the disease in time.

At the same time, it is necessary not only to pay attention to the correction of external defects of the pathology, but also to treat vision: given that astigmatism often develops with coloboma, it is necessary to choose the appropriate corrective optics, and the patient himself must be under the supervision of an ophthalmologist and undergo regular examinations to avoid the development of the disease.

In contact with

This anomaly is usually divided into types according to the time of occurrence:

Congenital coloboma, which occurs when the eye rudiments are exposed to intrauterine damage factors. As a result, the embryonic fissure in the eye cup is improperly closed, which disrupts the shape of the formed structures of the eye.

Acquired coloboma develops due to injuries of the eyeball, with loss of viability and necrosis of some structures of the eye. Also, the cause of coloboma sometimes becomes a postoperative defect (for example, with iridectomy due to tumors of the iris).

The reasons for the development of colobomas are visible from its classification.

Manifestations of coloboma

Symptoms of coloboma are due to damage to the part of the eye on which it arose.

For coloboma of the iris, blinding is characteristic. This concept should not be confused with blindness. The patient retains vision, but the ability of the eye to regulate the amount of incoming light is impaired.

If the coloboma is acquired, the eye is unable to contract due to damage to the pupillary sphincter area. Congenital coloboma can shrink with the pupil, but it still does not take on the required size. In addition, it is worth remembering about a cosmetic defect that is visible to the naked eye, which can cause psychological trauma (especially for children).

The coloboma of the ciliary body is manifested by a violation of accommodation, in which the patient complains of difficulty in recognizing closely spaced objects.

Choroidal coloboma is characterized by the presence of a damaged area with the absence of a choroid, which disrupts the nutrition of the retina. This area of the retina does not participate in the perception of the image; accordingly, a scotoma occurs in the field of view of the affected part of the retina.

Optic nerve coloboma is similar in clinical manifestations with retinal coloboma. since a scotoma occurs at the site of the missing section of the nerve.

Lens coloboma is manifested by the appearance of areas with different light refraction in the area where part of the lens is missing and the refraction of rays is impaired, which is similar in mechanism to astigmatism.

With eyelid coloboma, vision is not impaired. Only with its large size is it possible to disturb the hydration of the cornea with tear fluid. But there is another problem - a significant cosmetic defect of the eye.

coloboma

Coloboma is an acquired or congenital pathology of the organ of vision, which is manifested by complete or partial splitting of its structures. The term coloboma was introduced by Walter in 1821, translated from Greek means "missing part". The frequency of coloboma in the population is about 0.5-0.7 per 10,000 newborns. According to statistics, among all forms, iris coloboma is the most common (1: 6000). Pathology with the same frequency occurs among males and females. Congenital splitting of the choroid is one of the causes of blindness and visual impairment in childhood. The disease is most common in China (7.5:10,000), USA (2.6:10,000) and France (1.4:10,000).

Symptoms of a coloboma

The degree of visual acuity reduction in optic nerve coloboma depends on the extent of the lesion. With an isolated defect, vision may correspond to the norm; in case of combination with microphthalmos or splitting of other structures of the eyeball, complete blindness is possible. Most patients report double vision, dizziness. disturbance of binocular vision in the form of strabismus. The disease is often accompanied by the development clinical picture astigmatism of the myopic type (decrease in visual acuity, distortion of the image before the eyes). The congenital form of the pathology is often combined with Goldenhar, Down and Edwards syndromes, as well as epidermal nevus.

Diagnosis of coloboma

Methods for diagnosing coloboma depend on the form of the disease. Coloboma of the iris is characterized by the appearance of a defect in the form of a pear or a keyhole, which are visualized during external examination. When conducting ultrasound biomicroscopy, the congenital form in most cases is accompanied by hypoplasia of the ciliary body. The ciliary processes are shorter and wider than normal. The randomness of the fibers and the fuzziness of the structure of the zinn ligament indicates its underdevelopment. The degree of visual acuity reduction is determined by the method of visiometry.

With coloboma of the optic nerve, a slight increase in its diameter is determined by ophthalmoscopy. Rounded light depressions with clearly defined edges are visualized. B-mode ultrasound scanning or computed tomography (CT) can detect deep defects at the posterior pole of the eyeball. In some cases, magnetic resonance imaging (MRI) reveals hypoplasia of the intracranial optic nerve. After the age of 20, rhegmatogenous retinal detachment often develops. With progression in patients with pathological depressions in the optic nerve head, MRI signs of macular edema are determined, which often leads to rupture and retinal detachment. Histological examination reveals concentrically oriented smooth muscle fibers.

The coloboma of the choroid at ophthalmoscopy is a white formation with scalloped edges. As a rule, the defect is localized in the lower parts of the fundus. With visometry, myopia is determined. the degree of which depends on the extent of the lesion. With biomicroscopy, the lens coloboma has the appearance of a split, which is located in the lower inner quadrant. The progression of the pathology leads to a pronounced deformation of the lens equator.

Treatment of coloboma

With damage to the optic nerve, laser coagulation is indicated only for patients with the formation of a subretinal neovascular membrane. Vitrectomy followed by laser coagulation of the retina is recommended when visual acuity is reduced to 0.3 diopters with concomitant macular retinal detachment. In addition, the method of treatment of chorioretinal coloboma is endodrainage through the intermediate membrane with further laser photocoagulation of the retina around the marginal zone. With a pronounced coloboma of the lens, it is necessary to remove it, followed by implantation of an intraocular lens. In turn, the defect in the form of a split eyelid is eliminated with the help of blepharoplasty.

Forecast and prevention

Coloboma of the eye

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 always everything goes according to plan: adverse external factors, genetic defects, accidental breakdowns lead to congenital developmental defects. These include coloboma of the eye.

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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.

All parts of the eye can be damaged, from the optic nerve to the eyelids. Very often it is accompanied by microphthalmos - a sharp decrease in the size of the eyeball, as well as increased intraocular pressure.

traumatic coloboma is much less common congenital. It usually leads to mechanical damage to the 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:

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.

Choroidal coloboma- the absence of part of the choroid of the eye.

Ciliary body coloboma impairs the functioning of the accommodative apparatus and leads to visual impairment.

Coloboma of the lens and optic nerve occurs much less frequently than other forms. It negatively affects vision, accompanied by strabismus.

Coloboma eyelid usually affects the lower eyelid, with a significant defect size eyeball can dry out, which is fraught with corneal ulcers and other secondary diseases.

Different types of congenital coloboma often occur simultaneously. She can be like unilateral. so 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:

in the early stages of pregnancy, they 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?

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.
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.
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 near.
With optic nerve coloboma, scotoma is observed, as well as accommodation disturbances and strabismus.
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, 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 visual eye and choroid is not treated: it is impossible to restore the nervous 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.

congenital iris coloboma

translation from English

The iris is the portion of the choroid that lies in front of the lens. It contains the pigment melanin, the amount of which determines the color of the eyes. In dogs, the eyes are usually brown or blue color, in cats - brown, blue, green or yellow (gold). The round black hole in the center of the iris is the pupil. Its diameter is able to change in different lighting conditions, like the aperture in a camera. In bright light, the pupil constricts; in dim and dark light, the pupil dilates. The function of the pupil is to regulate the amount of light rays passing into the eye towards the retina.

What is a coloboma?

The term coloboma comes from the Greek word koloboma, which means shortening, shortening. A coloboma is a defect in the iris in which part of the iris is missing or very thin. Visually, this is a black hole in the iris, located, as a rule, below the pupil (if compared with the clock face, then at about 6 o'clock) and resembling a pear or a keyhole in shape. The size of the defect varies. With significant defects, the edge of the pupil looks uneven, with notches. Additional, unregulated, holes in the iris allow excess light into the eye, as a result, the animal squints and squints.

The defect is common in Australian Shepherds (Aussies) and Basenjis.

Coloboma is a congenital defect in the development of the iris. Most cases with congenital colomba are genetically determined. Animals with such a defect are not allowed to breed. If you are purchasing a purebred puppy from the breeds listed above, ask the breeder for a certificate issued based on the results of both parents' eye examinations.

If you still have doubts, consult an ophthalmologist. The doctor carefully examines the baby's iris, then instills a drug that dilates the pupil, and once again carefully examines the eye. The sooner you show the puppy to the doctor, the more likely it is to detect a coloboma, since defects are easier to detect while the puppy's iris is light in color.

Coloboma and particle "NOT"

Iris coloboma is relatively common, but:

Does NOT affect visual acuity
Does NOT lead to other diseases
It is NOT dangerous, but the problems associated with it (coloboma of the lens, retina, cataracts, etc.) can cause visual impairment. Some diseases are treatable.
Does NOT affect the working qualities of the dog, for example, if we talk about shepherd dogs
NOT treated.

In case of significant defects, the animal should be protected from exposure to bright light. Doctors recommend protecting your pet's eyes on sunny days with animal-specific sunglasses (available online) to help reduce squinting. But it is obvious that this is a matter of "taste" and not every dog will agree to become a "fashionista". Well, as for cats, most of them flatly refuse to wear glasses. But there's a first time for everything.

What is a coloboma? This is an ophthalmic disease in which part of the membrane of the eye is missing. The most common in medical practice is coloboma of the iris. As a rule, this is a congenital anomaly of intrauterine development, however, there are cases of acquired coloboma.

The disease is characterized by splitting of the retina, iris, eyelid or optic nerve. The general clinical manifestations of colobomas of all types are the same: reduced vision, pain in the eyes.

The reasons

The causes of the development of coloboma are divided into types, based on the time of occurrence:

congenital coloboma, when intrauterine development factors affect the rudiments of the visual system, as a result of which the embryonic fissure in the eye cup does not close properly;
acquired - develops as a consequence of injuries of the eyeball or with necrosis (death) of some structures of the eye, there are also cases of coloboma as a consequence of surgical intervention.

The following are also different clinical forms colobom:

bilateral and unilateral, depending on whether one or both eyes are damaged;
complete and incomplete (with the first form, the defect is noted in all layers of the iris, and with incomplete - only in individual layers).

Symptoms

Manifestations of the disease are caused by damage to the part of the eye where splitting occurred. Symptoms of a coloboma of the eye are as follows:

with acquired eye coloboma, the pupil cannot contract due to damage to part of the sphincter;
damage to the iris is characterized by blindness, which should not be confused with complete blindness, because the patient retains vision against the background of a violation of the ability of the eyes to regulate the amount of light received;
at congenital disease the coloboma shrinks along with the pupil, but without taking on normal sizes;
cosmetic defect visible to the naked eye;
damage to the ciliary body is characterized when the patient complains of difficulty in recognizing objects located nearby;
choroidal coloboma appears to be the presence of a damaged area where there is no choroid that disrupts the nutrition of the retina;
similar in clinical manifestations to retinal damage, because scotoma develops at this site;
when the lens is damaged, areas with different refraction appear in the missing area;
eyelid coloboma does not impair the function of vision, but there is another problem - a significant visible defect of the eye.

Coloboma in children

Coloboma is often diagnosed in infants in the first months of life when the mother notices a suspicious hole in the iris of the child or thinks that the pupils are unusually shaped. In this case, it is recommended to visit an ophthalmologist, preferably a pediatric one.

There are many causes of eye colobomas in children:

congenital Down syndrome, Edwards;
basal encephalocele;
focal hypoplasia of the skin.

The probability of having children with the problems under consideration is much higher in those women who:

had infection with cytomegalovirus infection, the consequence of which is intrauterine infection of the unborn child;
on the early term were taking drugs or drinking alcohol during pregnancy.

There are several cases of coloboma development as a genetic mutation.

Kinds

Colobomas are divided into types, which are determined by the location of the lesion:

iris - pathology is detected most often, the defect is pear-shaped and is located in the lower part of the iris;
choroid - a defect in the choroid of the eyeball;
optic nerve, lens - rare types of lesions, manifested by the absence of parts of these organs or their deformation;
retinal coloboma - there is no part of the organ, which disrupts the function of the accommodative apparatus of vision;
eyelids - pathology manifests itself in the form of a triangular cut of the lower eyelid.

According to the degree of prevalence, colobomas of the eyes are divided into:

isolated, when only one specific department is affected and is not combined with other pathological facial injuries and diseases;
combined, in which several parts of the eye are involved;
penetrating, when all eye linings are involved in the destructive process.

Diagnostics

Colobomas are successfully diagnosed by visual examination, because the characteristic defect is clearly visible. The main symptom is a pear-shaped defect in the iris of the organ of vision, with the wide part directed upwards, the narrow part downwards. Such a deviation resembles the appearance of a keyhole.

There are methods that help to reliably establish this diagnosis:

biomicroscopy - when using a slit lamp, they study in great detail anterior section eyes and detect microscopic lesions of the iris, and also evaluate the configuration of the lens;
ophthalmoscopy - using this method examine the fundus, where lesions of the choroid are detected in the form of light areas of the retina without a network of vessels, the boundaries of such areas are clear and marked along the edges;
perimetry is an examination of the visual fields, in which the loss of visual fields (cattle) is determined due to a violation of the blood supply to the retina;
histological examination - to identify pathological changes smooth muscle fibers of the organs of vision.

Treatment of coloboma

When the lesion of the iris is small and still practically does not manifest itself, then it is possible not to treat the disease: to suppress primary symptoms it is necessary to limit the amount and brightness of light passing through.

In this case, it is recommended to wear mesh glasses and tinted contact lenses that have a transparent center. With a significant violation of visual function, an operation is possible. At surgical intervention an incision is made along the edge above the defect, and then the edges of the iris are sutured, pulled together.

collagenoplasty

This method is used to treat such a defect in coloboma as myopia. The procedure looks like this: an artificial framework is created from a collagen-like substance to prevent an increase in the eyeball.

Choroidal and optic nerve coloboma currently do not have adequate treatment, because the optic nerve is a nervous tissue, which has not yet been replaced by methods and methods. The choroid is also not subject to transplantation, as it is represented by small vessels.

Blepharoplasty

One of the effective surgical methods elimination of eyelid coloboma - blepharoplasty. With such assistance, the patient's lens is replaced with an intraocular artificial lens, which is of such high quality that it is capable of accommodation.

At the first symptoms of the disease and deviations in vision, it is urgent to visit a doctor for a diagnosis in order to start treatment of coloboma as soon as possible. This is the only way to exclude the development of complications, which are much more problematic and expensive to treat.

Forecast

Currently, there are no specific measures to prevent the occurrence of coloboma, but there are effective methods and ways to help patients for normal life. If, with a slight damage to the organs of vision, all precautions are observed, then the disease will not progress. Otherwise, it will lead to complete blindness.

Coloboma of the iris is an ophthalmic disease characterized by the absence of some part of the corneal membrane in the region of the iris. In this case, the retina, iris and splits.

According to the form of the disease, colobomas are distinguished:

Unilateral - on one eye;
Bilateral - on two eyes;
Complete - an anomaly of all layers of the iris;
Incomplete - violation of the structure of both layers;
Typical - localized in the lower-nasal square of the iris;
Atypical - localized in other areas of the eyeball.

Also, colobomas of the iris are divided into three types, based on the degree of prevalence:

Isolated - affects one part of the eyeball, does not combine with other pathologies or injuries of the face and eyes;
Combined - affects several departments;
Penetrating - extends to all departments and layers of the eye.

This anomaly is usually congenital and develops in the fetus inside the mother's womb.

Only in exceptional cases does an acquired coloboma occur.

Congenital pathology develops due to the impact on the fetus of external factors. Due to failures in the mother's body, the algorithm for narrowing the embryonic fissure in the eye cup is violated. Malfunctions in the maternal organism, like the coloboma itself, can be hereditary and transmitted in an autosomal dominant and autosomal recessive manner.

Acquired coloboma develops as a result of eye injury or necrosis of some of its structures. Also, the cause may be an unsuccessful surgical intervention.

Symptoms of an iris coloboma

The symptoms are always the same: blurred vision and pain in the affected eye.

With acquired pathology, the pupil does not contract due to damage to the sphincter. As a result, the patient suffers from so-called blindness, a condition in which the eye cannot regulate the amount and intensity of the light it receives.

The luminous flux literally blinds a person. In patients with congenital coloboma, the affected pupil is reduced, but still does not take on normal size. It also affects light perception and causes severe discomfort.

Accommodation is often disturbed - a person cannot quickly adapt to a change in the distance to the objects in question. May develop. characteristic symptom is also a cosmetic defect, which is clearly visible even at first glance.

Pupils are strongly deformed and increase in size. The defect looks like a pear-shaped hole in the place of the pupil. Most often, its wide part is located at the top, and the narrowing is directed downwards. In especially difficult cases, a shift of the iris is observed.

Coloboma of the iris in children

This pathology, diagnosed in newborns, may be a sign of other, no less serious illnesses: Down's syndrome, basal encephalocele.

Children are much more likely to develop these diseases in the following circumstances:

A woman during pregnancy was infected with cytomegalovirus infection. At the same time, the fetus was infected;
In the early period of gestation, the pregnant woman took drugs and alcohol;
There is a rare genetic mutation that does not depend on the state of health and lifestyle of a woman.

Diagnosis of iris coloboma

The doctor can make a preliminary diagnosis after the first visual examination. However, this requires additional diagnostics to clarify the degree of damage and the risks to the patient's vision. He is sent for an examination, which includes:

Biomicroscopy is a method that requires. The doctor examines the anterior eye section in great detail and detects lesions of the iris. The method is quite accurate, so even microscopic defects can be determined. At the same time, the configuration of the lens is assessed.

– checking the condition of the fundus of a person
- study of the visual field with the determination of the loss of blind areas from it. The technique allows to detect the presence of livestock
Histological analysis - detection of malignant changes in the tissues of the smooth muscles of the visual organ.

Treatment of iris coloboma

There is no medical treatment for coloboma. She only lends herself surgical treatment. If the disease is not expressed and the hole is small, surgery is not required, but such a patient needs regular monitoring by an ophthalmologist.

The doctor in this case prescribes the wearing of mesh glasses and contact lenses, darkened over the entire surface with a small transparent center.

The lenses mimic a healthy eye and a normal sized pupil to reduce the amount of light entering the eyeball. Mesh glasses perform the same function.

It is especially important to wear these devices outdoors, as the sun and excessive ultraviolet radiation negatively affect even healthy eyes.

If a congenital coloboma is diagnosed in a newborn, there is no need for surgery either. The oculist must check the baby's visual acuity, refraction, perform ophthalmoscopy and biomicroscopy during the first year of the child's life. After that, the need for cosmetic correction or plastic correction surgery is determined. These manipulations are performed at preschool and school age.

In the proposed video you can see how the iris plastic surgery is performed:

To eliminate a visible cosmetic defect, decorative contact lenses should be worn, which are usually used to change the color of the eyes. With combined and penetrating coloboma, surgery is indicated.

The surgeon makes an incision along the edge of the limbus above the coloboma. Then he gently brings the edges of the iris closer to each other and connects them together. Thus, the size of the pupil approaches the natural one, which makes it possible to normalize the vision of a person.

Collagen plasty is indicated for patients who have developed myopia due to coloboma. During the operation, a strong frame is created from an artificial collagen-like substance. This is necessary to prevent an increase in the cornea of \u200b\u200bthe eye in size. Accordingly, the risk of an increase in coloboma along with the cornea disappears.

Some patients are prescribed a less traumatic intervention, during which tunnel incisions are made. But the essence of such an operation is also to normalize the size of the pupil.

Disease prognosis

To date, medicine has not developed measures to prevent the recurrence of coloboma. However, doctors have effective ways helping patients maintain a high quality of life.

If you follow these measures, then the patient's condition will not worsen. After the operation, you should also avoid prolonged exposure to the sun, wear lenses, dark or mesh glasses.

It is better to refuse too bright lighting in the rooms. Otherwise, visual acuity may begin to deteriorate again, which will gradually lead to complete blindness.

For the vision of young children with congenital coloboma, bright light is not so destructive, but it is also better to limit it as much as possible until an accurate diagnosis is made and the examination is completed. In this case, the wearing of any devices due to the age of the patient is impossible.

A coloboma of the iris does not lead to a serious danger to human life even at the most advanced and destructive stages. However, vision lost due to this disease is no longer recoverable.