Coloboma of the optic nerve head in a child. What is coloboma of the lens of the eye, its causes and treatment? Vascular coloboma can be done by physical exercise

Coloboma choroid- this is an illness of a polyetiological nature, in which splitting of the choroid occurs in a combined, isolated manner.

In addition to the choroid of the eye, pathological process may spread to the retina, eyelid, or optic nerve. The disease can be either congenital or acquired.

As for age and gender restrictions, there is no clear distribution - the disease occurs equally in both women and men. According to statistics, the largest number of patients with this diagnosis live in China, France and the USA.

Regardless of what exactly is the root cause (in an acquired disease) and what form it occurs, the clinical picture will be characterized by pain in the eyes and decreased visual acuity.

Diagnostic measures include only instrumental methods examinations and laboratory standard tests are carried out only in individual cases. Treatment is only radical, that is, through surgery.

There are no conservative methods of treating choroidal coloboma, just like traditional medicine.

The further prognosis will depend on the form of the disease when treatment was started. However, with the isolated form, the outcome is most often favorable.

This disease is included in the list international classification under a separate meaning. Thus, the ICD-10 code is Q 0.13.

The exact reasons for the development of congenital coloboma have not yet been established. It is clear that this is deterministic disease, which is transmitted according to an autosomal dominant mode of inheritance. One of the predisposing factors for this disease is the infection of the parent with cytomegalovirus during pregnancy.

The acquired form of coloboma of the lens and other segments of the visual organs may be due to the following etiological factors:

  1. gene mutations resulting from certain systemic or autoimmune diseases.
  2. hormonal disorders.
  3. chronic ophthalmological diseases.
  4. complications after iridectomy.
  5. alcohol abuse, drug use.
  6. tissue necrosis, scar formation as a result of certain diseases or trauma.
  7. pathological neoplasms of the iris.

As a rule, in newborns this disease is diagnosed only in the congenital form and often occurs with heterochromia.

Classification

Depending on the etiological factor The following forms of coloboma are distinguished:

  • acquired;
  • congenital.

Based on the nature of the spread of the pathological process, the following forms are distinguished:

  1. bilateral - both eyes are affected.
  2. unilateral - only one eye is involved in the pathological process.

Considering the area of ​​damage to the membrane or other segment of the organ of vision, the following forms are distinguished:

  • complete – all layers of the segment are affected;
  • incomplete – splitting is only partial. In this case, the prognosis will be positive, since the deterioration of vision does not occur so rapidly.

There are also typical and atypical forms of pathology. A typical coloboma is localized in the inferior nasal quadrant of the iris, and with any other type of location it is said to be atypical form ophthalmological disease.

In addition, this pathological process can be considered from the clinical point of view of the affected segment. Based on this approach to classification, the disease can be of the following types:

  1. Coloboma of the iris.
  2. coloboma optic nerve.
  3. retinal coloboma.
  4. Coloboma of the optic nerve head.
  5. Coloboma of the choroid.

Clinicians note that most often a pathological process involving the choroid is diagnosed. All other forms occur extremely rarely, so this form of classification is practically not used.

Symptoms

The clinical picture in this case is characterized not only by the patient’s internal sensations, but also external changes. Pathological changes cause the iris to take the shape of a keyhole or pear. In addition, at the site of splitting is formed black spot . However, if the development of the disease is isolated and localized only in the area of ​​the iris, then there may be no external effect.

Coloboma may disappear, but this happens extremely rarely and the reasons for the development of a pathological process with such pathogenesis have not yet been established.

In general, the clinical picture of this disease is characterized as follows:

  • decreased visual acuity;
  • impaired light perception;
  • periodically an eclipse appears before the eyes, other types of visual hallucinations may be present;
  • nystagmus, that is, involuntary oscillation of the eyes;
  • double vision;
  • deterioration of twilight vision or complete blindness in some cases;
  • dizziness, feeling of heaviness in the area of ​​the brow ridge and forehead;
  • symptoms initial stage astigmatism;
  • formation of erosions in the eyelid area.

Often such a course clinical picture complicated by other ophthalmological diseases. With coloboma of the eyelids, the disease is often supplemented by secondary conjunctivitis. This nature of the course of the disease is often present in children.

Diagnostics

If you have the symptoms described above, you should contact ophthalmologist. Additionally, consultation with a medical geneticist may be necessary if we are talking about a child with a suspected congenital form of the disease.

First of all, a visual examination of the patient is carried out, during which the doctor determines the nature of the clinical picture, personal and family history, and carefully studies the patient’s medical history.

In order to accurately make a diagnosis, as well as determine the form of the disease, the following diagnostic measures are carried out:

  1. visometry.
  2. ophthalmoscopy.
  3. biomicroscopy with a slit lamp.
  4. histological studies.

In most cases, coloboma can be diagnosed by visual examination, since it has specific external manifestations. However, in this way it is impossible to determine the etiology, form and stage of development of the disease, for which instrumental diagnostic measures are carried out.

Treatment

The congenital form of the disease in a child requires emergency therapeutic measures, since in this case the risk of complete loss of vision is very high. However, if the pathological process occurs in isolation and there is no risk of deterioration, then the operation is carried out as planned; it is better to do this in preschool or primary school age.

If visual acuity decreases, the following can be done:

  • peritomy with further suturing of the edges of the iris;
  • collagenoplasty;
  • surgical formation of a collagen framework, which will prevent further development of coloboma;
  • vitrectomy.

If a pronounced coloboma of the lens is diagnosed, then its excision is carried out with the further installation of an intraocular lens. If the eyelid is affected, blepharoplasty is performed.

Drug treatment as separate species There is no therapy for this disease. The same applies to folk remedies. Any medications or decoctions/infusions can be used in the postoperative period to prevent infection of the operated area, relieve swelling, pain and other symptoms.

If a person seeks help in a timely manner and will be complete course of treatment, the prognosis is quite favorable - vision can be restored, the disease will not affect the quality of life and performance.

A visible defect can be eliminated through plastic surgery.

Prevention

Regarding the congenital form of the disease, unfortunately, there are no specific preventive measures. In general, it is rational to follow the general recommendations:

  1. Protect the organs of vision from injury, thermal and chemical burns.
  2. Do not abuse alcohol, exclude drugs.
  3. carry out the prevention of ophthalmological diseases.
  4. if there chronic diseases, then strictly follow the doctor’s recommendations to avoid relapse.

It wouldn’t hurt to systematically go through preventive examination at the ophthalmologist for early diagnosis diseases or their prevention.

Coloboma of the iris is a rare pathology of the visual organs, diagnosed from birth, caused by a defect in the iris of the eye. The anomaly can be successfully treated with surgery or masked with lenses.

Coloboma is a defect in the iris of the eye. According to ICD-10, the condition is assigned codes Q12, Q13, Q14, the section depends on the location of the tissues changed by the pathology. If we imagine the layers of the iris, lens, and optic nerve, then a defect means the complete or partial absence of several layers of the organ of vision.

Congenital disease develops under the influence of diseases and external factors, affecting the mother during gestation at 4-5 weeks of pregnancy, is due to genetic mutations. Anomalies develop in all parts of the organ of vision: from the eyelid to nerve endings, often occur together with an underdeveloped eyeball against the background of increased intraocular pressure.

The acquired appearance develops as a result of mechanical damage to the eye during an accident, surgery or injury.

There are unilateral and bilateral coloboma, formed in both or one eye. The development of pathology is not associated with the age of the parents, race, gender, skin and eye color, or place of residence. One in ten thousand newborn babies is born with the anomaly.

Symptoms and causes of appearance in the eyes

General symptoms include decreased vision, regular pain, dizziness, split images. The degree of severity is related to the volume of affected tissue.

External manifestations of the disease are noticeable to a non-specialist only with coloboma of the iris and eyelid. Already at birth, the baby has a noticeable deformation of the shape of the iris: it is not round, as it should be normally, it is elongated downward, like leaking paint, and the pupil resembles a keyhole in appearance.

The congenital appearance is visible from birth. Pathology occurs more often upper eyelid.

Symptoms are expressed in drying out of the mucous membrane of the eye and can be easily corrected by surgical intervention. An ophthalmologist can make a diagnosis of coloboma of the eyelids, choroid, optic nerve, and retina during examination and based on the patient’s complaints.

The etiology is determined by the following factors:

  • cytomegalovirus transmitted by the expectant mother to early stages bearing a child;
  • alcohol taken by a woman during pregnancy;
  • drug addiction of a pregnant woman, drugs, in particular cocaine, have a pronounced teratogenic effect.

Congenital pathology in children is often accompanied by concomitant disorders: Down syndrome, Edwards syndrome, Chage syndrome, Ecardi syndrome, basal encephalocele, ankyloblepharon, heterochromia, epidermal nevus, cleft lip, cleft palate (cleft of the hard palate).

Types of coloboma

In addition to congenital, acquired (traumatic), unilateral, and bilateral coloboma, several more types of the disease have been described.

According to the degree of damage to the visual organ, they are distinguished:

  • complete coloboma, in which all structures of the eye and eyelid are absent, manifests itself along with other pathologies of intrauterine development;
  • an isolated type, in which the anomaly extends to only one structure: the eyelid, lens, and other components of the organ remain healthy, and additional pathologies are not diagnosed in the patient;
  • a combined form, which is characterized by damage to two or more structures of the eye. The severity of symptoms in the combined form varies, in some cases it is accompanied by other intrauterine anomalies.

Medical science distinguishes between typical and atypical coloboma.

Typical cases have already been described by scientists; atypical cases do not correspond to these descriptions. A complete classification of the disease is based on the location of the affected eye tissue.

Irises of the eye

If the violations are minor, the aesthetic defect is often corrected with the help of colored lenses.

If the lesion is extensive, the patient develops photophobia due to the inability to control the light fluxes entering the retina, as a result of which the patient experiences blindness, which after medical intervention passes.

A popular way to correct pathology is complex surgery, in which the deformed edges of the iris are excised, after which a normal iris ring is formed and sutured.

Century

Coloboma on the eyelids does not cause damage to visual function, being a cosmetic defect that can be corrected surgically.

Unpleasant symptoms of the disease include incomplete closure of the eyelids, drying out of the mucous membrane, injuries to the eyeball by the ciliary row, chronic infections eye.

Blepharoplasty is an operation to correct coloboma of the eyelids, lasts no longer than an hour, the patient expects a minimal recovery period.

Optic nerve

Coloboma of the optic nerve is characterized by its complete absence or deformation, pathology develops in the fundus. The degree of vision loss depends on the amount of deformed or absent nerve tissue, often develops in combination with strabismus, provokes the appearance of scotomas - blind spots. In adulthood, the patient develops a retinal tear or detachment. Medical science highlights the following types:

  • Choroidal coloboma, in which the vascular tissue of the eyeball is split, as a result of which its blood supply is disrupted. This anomaly is called vascular, it is expressed in the appearance of scotomas or darkened spots in the field of view, matching in size with the area of ​​​​the split tissue, in most cases leads to the development of myopia - myopia;
  • lens - characterized by a violation of the light-refracting function, the development of astigmatism and cataracts. The patient sees a blurry picture, the image is double;
  • retina - diagnosed when the patient develops secondary complications, when a rupture or detachment occurs. Primary signs The patient does not have any illnesses; with a complete or combined form of the disease, complete loss of vision is possible;
  • optic nerve head (ONH) is a rare pathology that currently cannot be corrected. Diagnosis of the defect is carried out at an appointment with an ophthalmologist using ophthalmoscopy. Characterized by decreased visual acuity, strabismus, myopia, and other optical disorders.

Treatment methods for optic nerve coloboma

Optic nerve coloboma is treated surgically if additional diseases occur, such as retinal detachment or rupture. The main methods of correcting pathology are:

  • vitrectomy - partial or complete removal vitreous;
  • gas tamponing - replacement of the vitreous body with a gas mixture in order to achieve tight contact between the retina and vascular tissue;
  • photocoagulation - soldering of the retina;
  • laser coagulation - soldering of the retina using a laser.

Complete cure of optic nerve pathology modern medicine is not available, science is unable to synthesize the replacement tissue from which the optic nerve is formed. Treatment remains symptomatic.

What to do if the eyelid does not open after surgery

The only way to correct eyelid coloboma is blepharoplasty, in which the eyelid is given a physiological shape using a scalpel. A complication of plastic surgery is eyelid ptosis, which makes it impossible to open the eyes. Such a consequence of the intervention means that during the operation the muscle or nerve that conducts nerve impulses to the brain was damaged.

The condition will not go away on its own, the patient requires repeated surgical intervention. The defect may be due to internal tissue swelling. In the first days after surgery, you must follow all the doctor’s recommendations.

Treatment prognosis and possible complications

To date, there are no preventive measures to correct the pathology. Coloboma is considered not a disease, but a developmental pathology; there are no measures for its treatment. Medical science, despite the presence detailed description the condition of the patient’s visual organs, suggests eliminating the emerging complications and consequences of the pathology using surgical techniques and masking the defect using lenses.

If there is a diagnosis, the patient is observed by an ophthalmologist and undergoes examination twice a year in order to promptly detect undesirable consequences, dangerous age-related changes vision and undergo a course of treatment. The prognosis for life with mild tissue damage is favorable when wearing colored lenses and sunglasses/mesh glasses as precautions. Severe violations are fraught with progressive vision loss, which leads to disability.

To prevent the development of coloboma, pregnant women should carefully monitor their health and refuse bad habits, lead healthy image life, take vitamins. Timely therapy will relieve dangerous complications.

Term coloboma(Greek "koloboma") means cut off or mutilated. With optic disc coloboma, almost the entire surface of the enlarged disc is occupied by a clearly demarcated bright white cup-shaped excavation. The excavation is shifted downwards, this reflects the position of the embryonic cleft relative to the primitive epithelial papilla.

The lower part of the neuroretinal girdle is thin or completely absent, while its upper part is relatively intact. Rarely, there are excavations that occupy the entire surface of the optic disc; however, a colobomatous defect is still recognized by deeper excavation in the lower sections. The defect may extend further down into the adjacent choroid and retina, in such cases microphthalmia is often observed. The anomaly is often accompanied by colobomas of the iris and ciliary body.

Axial images reveal a crater-shaped excavation of the posterior part of the eyeball at the attachment site.

Visual acuity may be reduced and difficult to predict based on visible changes in the optic disc. In contrast to the morning glow type disc anomaly, which is usually unilateral, unilateral and bilateral optic disc colobomas are equally common. Optic disc colobomas can occur sporadically or be inherited in an autosomal dominant manner. They may accompany multiple systemic abnormalities in a wide variety of conditions, including CHARGE complex, Walker-Warburg syndrome, Goltz focal dermal hypoplasia, Aicardi syndrome, Goldenhar syndrome, and linear sebaceous nevus syndrome.

Occasionally, associated with atypical excavations are detected large orbital cysts probably of colobomatous origin. The cyst may communicate with the excavation. Intrascleral smooth muscle cords oriented concentrically around the distal optic nerve may contribute to the optic disc contractility occasionally observed in optic disc colobomas.

In the eyes with isolated optic disc colobomas Serous retinal detachments may develop, probably due to leakage of retrobulbar fluid into the subretinal space, in contrast to rhegmatogenous retinal detachments with colobomas of the retina and choroid. Treatment includes patching, bed rest, corticosteroids, vitrectomy, scleral buckling, gas tamponade with fluid replacement, and photocoagulation. Spontaneous reattachment of the retina also occurs.

At T1-weighted MRI in the coronal projection, a decrease in the size of the intracranial part of the optic nerve is confirmed. Many cases of uncategorized optic disc dysplasia are classified as disc colobomas without differentiation. This complicates the determination of genetic diseases accompanied by colobomas. It is imperative that the diagnosis of optic disc coloboma only applies to discs with inferiorly displaced excavations white with minimal peripapillary pigmentary changes. It cannot but be surprising that, in contrast to many carefully documented case reports of the combination of optic disc anomaly of the “morning glow” type and basal encephalocele, the combination of basal encephalocele and optic disc coloboma does not occur.

Although phenotypic profiles Disc colobomas and optic disc anomalies of the “morning glow” type can partially overlap each other, ophthalmoscopic changes in optic disc coloboma most closely correspond to primary structural dysgenesis of the proximal part of the embryonic fissure, in contrast to the pathological expansion of the distal part of the optic stalk in case of optic disc anomaly of the “morning glow” type.

This hypothesis is confirmed by various systemic and ocular abnormalities associated with these two conditions. Sometimes there are optic discs that have signs of both of these anomalies: such changes may be a manifestation of disturbances in the early embryonic development of the proximal part of the embryonic fissure and the distal part of the optic stalk. However, in the vast majority of cases, optic disc coloboma and “morning glow” disc anomaly are separate pathological changes.

Colobomas most often develop sporadically, but can be inherited by an autosomal dominant, autosomal recessive or X-linked recessive mechanism. One study estimated the incidence of hereditary forms to be 10%, but the true incidence of hereditary colobomas is likely higher. In patients with colobomas, a large number of various mutations. With the exception of the CHD7 mutation, which causes 60% of CHARGE syndrome cases, none of these mutations predominate, and there is no “genetic panel”. Therefore, in the absence of other dysmorphic features, genetic testing is probably not indicated.

Variants of optic disc coloboma.

accompanied by detachment of the macular region of the retina in CHARGE syndrome.
Coloboma of the optic nerve head, accompanied by macular detachment.
Child (C) and parent (D); in some cases, it is possible to confirm the hereditary nature of the disease.

Coloboma of the eye is a pathology characterized by a violation of the integrity of the structures of the visual organs: a person is missing part of the iris, retina, lens, choroid and other elements of the outer part of the visual apparatus. Congenital coloboma is more common; as a rule, other defects are detected in parallel - cleft lip, cleft palate. At the same time, the defect does not affect visual acuity with rare exceptions.

The disease can also be acquired. In this case, the factors provoking its development are injuries, surgical interventions, severe intoxications with severe damage to the structures of the visual organs. In itself, coloboma of the iris or its other elements does not pose a threat to human life. He can study and work fully, but the quality of life is nevertheless impaired - patients, especially childhood, suffer from moral discomfort and their own “inferiority”. Treatment of the disease is only possible through surgery. Whether it makes sense to take such a step is determined only by the doctor, individually in each individual case.

For information: coloboma of the eye membranes is a fairly rare pathology, it occurs in one newborn out of eight thousand. The main causes of pathology are intrauterine development disorders. If the mother has serious chronic diseases, she suffered infectious disease severely ill, took inappropriate medications or led an unhealthy lifestyle.

Description and varieties

The human visual apparatus is a complex system that includes many elements and links that are closely interconnected. The eyeball and eyelid are its outer part. The eye consists of several membranes; lesions in coloboma can affect any of them or several at once.


A defect in the iris of the eye is not difficult to diagnose based on a visual examination

Depending on which part has not fully developed, the following types of pathology are diagnosed:

  • Coloboma of the century. It appears as a triangular or semicircular notch on the surface of the lower or upper eyelid. The most harmless type of pathology, but the most unpleasant for children: the defect is clearly visible to others, often causes questions and ridicule from peers, which causes the development of complexes and depressive state The child has. With severe clefting of the eyelids, there is a risk of drying out the surface of the eyeball, which can lead to inflammation and ulceration.
  • Coloboma of the iris - this form of the disease is easy to diagnose, since this type of pathology manifests itself visually: it is clearly visible on the surface of the eye dark spot drop-shaped or slit-shaped. When a large section of the structure is split, the iris may be completely absent and appear as a bundle of fibers. Functionality of the pupillary sphincter during congenital form is not impaired, so vision does not suffer either. But with the acquired form of the disease, the sphincter remains motionless.
  • Retinal coloboma – this type of disease is characterized by the formation of a slit-like defect in the iris of the eye. If the macula, where most of the receptors responsible for the perception of light are located, is affected, the quality of vision is seriously impaired.
  • Coloboma of the lens - usually the lower edge of the lens is affected: notches, notches appear on it, and the shape changes. This is due to the defective development of the ciliary body. The muscle fibers of this element are responsible for supporting the lens and its accommodation. If they are weakened or underdeveloped, the lens becomes deformed.
  • Choroidal coloboma is associated with lesions of the iris and ciliary body; when examining the fundus, a bluish or whitish spot is revealed in its lower part. With this form of the disease, it inevitably becomes deformed eyeball, making it easy to detect.
  • Coloboma of the optic nerve. Most often, lesions of the optic disc are found together with lesions of the lens. This form of the defect seriously affects the patient’s vision, manifested by deformation of the pupils and strabismus.


The photo shows what a coloboma of the upper eyelid looks like in a child

In most cases, the baby is diagnosed with several types of congenital coloboma - in this case, they speak of a complete defect in the eye structures. If the lesion is localized to only one structure, this is called an incomplete defect. In addition, the pathology can be unilateral or bilateral, typical if located closer to the bridge of the nose in the lower part of the eye, or atypical if the location is different.

Why does the defect develop?

An optic nerve defect (OND), as a rule, is detected immediately after the birth of a child, that is, it is caused by disturbances in the intrauterine development of the fetus. The rudiments of the visual organs appear in the embryo already in the second week after conception - these are the so-called bubbles, from which the eyes will later form. As the embryo develops, one of the walls of the bladder begins to bulge inward, forming a concave rudimentary eye structure with a slit.

Next, the edges of the gap begin to approach each other and join together around the fifth week of pregnancy. This point is very important: if the edges of the gap do not close completely, after 2-3 months defects in the iris and other elements of the organ of vision will be detected.


An unhealthy lifestyle, alcohol consumption, and especially cocaine, affect the intrauterine formation of the optic vesicle and the timely closure of the palpebral fissure, which can lead to the development of coloboma

Factors that provoke disruption of the optic fissure healing process may be:

  • various infections during gestation, penetrating through the placenta to the fetus;
  • serious medical supplies that are able to cross the placental barrier;
  • alcohol consumption during pregnancy and other narcotic substances.

Underdevelopment of the optic nerve is most often observed against the background of systemic developmental defects in the child. Down syndrome, Edwards syndrome, Patau syndrome, basal encephalocele, focal skin hypoplasia, trisomy are often accompanied by visual defects in the child.

Acquired coloboma becomes a complication of injuries to the organs of vision or a side effect of surgery. Both types of pathology can be distinguished by its typical manifestations.

Important: congenital coloboma is inherited from parents to children as an autosomal dominant trait. If the father or mother has genetic predisposition to this disease, the probability of its development in a child is more than 50%.

Characteristic signs and symptoms

If the coloboma is localized on the iris of the eye, then it is visible to the naked eye. All other forms can be detected only with careful examination of the ocular structures. Diagnosis is complicated by the fact that the pathology usually develops and is asymptomatic. Symptoms of coloboma are easily confused with manifestations of other ophthalmological diseases.

Congenital coloboma can be distinguished from acquired coloboma by the following characteristic features:

  • with a congenital pathology affecting the iris, the coloboma is directed downward, which is explained by the peculiarities of the overgrowth of the optic fissure during the period of intrauterine development of the fetus;
  • congenital coloboma can contract in response to a light stimulus;
  • with a choroidal defect, the retina receives insufficient nutrients, which leads to the formation of a light spot on it - a scotoma. This manifests itself as the loss of a certain area in the field of view. Its size depends on the size of the scotoma.
  • With coloboma of the lens, the organ changes its shape, which can manifest itself as symptoms of astigmatism.


Strabismus – characteristic feature lens defect

As mentioned above, the defect usually does not affect visual acuity. But when exposed to too bright a flash of light, blinding may suddenly occur, which goes away on its own after some time. To prevent unpleasant symptom, the patient should use tinted lenses or sunglasses. This will also hide a cosmetic defect on the face.

Note: it is not always possible to diagnose pathology based only on a visual examination. To accurately identify coloboma, a comprehensive examination of the deep structures of the eye will be required: ophthalmoscopy, refractometry, biomicroscopy.

Is it necessary to treat

Apart from being cosmetic, coloboma in most cases does not cause any optical defect. But unaesthetic appearance can give a person such strong psychological comfort that a solution to the problem is necessary. It makes no sense to treat coloboma of any form of origin using conservative methods. Only surgery can help different levels Difficulty: defective tissues of the iris or outer eyelid are sutured.

  • In cases of extensive coloboma, plastic surgery of the external organ of vision is indicated.
  • With choroidal lesions, tissue suturing is impossible, since it is not possible to accurately detect the location of the lesions. Vascular transplantation is indicated.
  • If the lens is damaged, it is removed and a special lens is implanted in its place. An artificial lens is in no way inferior to a natural lens in its ability to refract light. The most modern models are also capable of accommodation.


Surgery pathology is indicated only if the coloboma is severe and affects the quality of vision

Optic nerve defects cannot be eliminated even through surgery; so far there is no technique that would restore the missing nerve fibers.

Further appointments are made depending on the accompanying diseases and disorders:

  • If coloboma is combined with other ophthalmological pathologies accompanied by visual impairment, then they must be treated as well.
  • For eyelid lesions, moisturizing, softening, and protective drops are prescribed to prevent the development of dry eye syndrome and inflammation.
  • For glaucoma, it is necessary to regularly use topical medications to reduce intraocular pressure.
  • For retinal detachment, photocoagulation is performed on the area around the retina.
  • If decreased vision is detected, the doctor selects corrective contact lenses or glasses.


Multivitamin complexes and medicinal plants will be useful for strengthening the eyes and maintaining visual functions, which is also important, but will not help get rid of coloboma

For any diagnosis, supporting medications and folk remedies: vitamin and mineral complexes for the eyes with lutein and blueberry extract, decoctions medicinal plants, helping to strengthen the organs of vision. These are blueberry leaves and fruits, chamomile, linden, eyebright. It should be understood that folk remedies based on medicinal herbs help preserve the functions of the visual organs and partially prevent the development of certain pathologies. But they are not capable of radically changing the patient’s condition and visual acuity.

All operations are performed under general anesthesia, have a number of contraindications and can lead to undesirable side effects and complications. Therefore, if coloboma does not reduce visual acuity, they try to exclude surgical intervention. A cosmetic defect is corrected using optical devices - contact lenses or glasses.

Summary: Coloboma of the eye is a deficiency of part of the tissue of one of the elements of the eye block or eyelid. Coloboma is a fairly rare, predominantly congenital pathology that does not pose a direct threat to the health and life of the patient; as a rule, it is accompanied by other facial defects in the newborn. But it can cause serious moral discomfort and serve as an impetus for the development of other ophthalmological diseases. Prevention of coloboma is complicated by the fact that the defect is often caused by a genetic predisposition. The risk can be reduced if, during the period of bearing a child, the expectant mother refuses to use alcohol, cocaine and other drugs. It is important to avoid serious infectious diseases and taking toxic medicines. If pathology is detected, treatment is carried out only for extensive lesions by surgery. in other cases, the cosmetic defect is corrected with lenses or glasses.

Coloboma is a defect in the membranes of the eye. This disease is manifested by the absence of part of the eye membrane. Coloboma - congenital anomaly, which develops as a result of intrauterine disorders.

ICD-10 code: Q13.0 Coloboma of the iris. (Coloboma NOS)

Young female patient with iris coloboma in both eyes

As an independent disease, it rarely manifests itself, often manifesting itself with diseases such as cleft lip or cleft palate (cleft palate).

However, it is worth knowing that coloboma can also be an acquired pathology.

How is a coloboma noticeable?

In ophthalmology, the following types of coloboma are distinguished:

  • lens;
  • century;
  • irises;
  • optic nerve head,
  • choroid,
  • retina.
The photo shows a congenital coloboma of the upper eyelid in a child

When all of the above structures are involved in a similar process, a complete coloboma develops, partial - with a less extensive lesion.

It can affect one or both eyes. If the form is typical, then the defect is localized in the lower nasal quadrant, which is due to the topography of the ocular canal fissure. If localization occurs in other parts of the visual organs, then this Atypical coloboma.

Main symptoms:

  1. A cosmetic defect (eyelids, iris) is often associated with reactions that manifest themselves in emotions (inferiority complex, depression, irritability).
  2. People with this disease cannot tolerate bright light. The pupillary sphincter does not sufficiently regulate the flow of light that enters the eye. A blinding effect appears.
  3. There is deterioration in vision, people begin to not see clearly.
  4. It is not possible to see objects that are at close range! Accommodation is disrupted, since the damaged ciliary body does not regulate the curvature of the lens to the extent it should be.
  5. The eye feels dry with a significant eyelid defect and discomfort.

If you have at least one of these symptoms, it is recommended to immediately consult a doctor. Delaying treatment can lead to terrible complications, including loss of an eye!

Causes

This anomaly is divided depending on when the disease began to manifest itself:

Congenital coloboma. When the eye rudiments are exposed to factors of intrauterine damage, this disease occurs. As a result, incorrect closure of the embryonic fissure in the optic cup occurs, this disrupts the shape of the eye structure that has formed.


The photo shows a congenital iris coloboma in a child

Acquired coloboma. With injuries to the eyeball, this disease develops; it occurs with loss of vitality and necrosis of some eye structures. In rare cases, a postoperative defect occurs (iridectomies due to iris tumors).


An example of acquired coloboma after inflammatory disease cornea and lens

Diagnostics

An external examination can diagnose coloboma of the eyelid or iris. This defect is hard to miss! Using light exposure, you can check whether it is really a congenital coloboma of the iris.


The photo shows the diagnosis of iris coloboma in an adult male patient.

When light rays hit the eye, contraction occurs with the lens, which allows it to be differentiated from acquired coloboma.

Treatment

In order to avoid a direct hit sun rays It is recommended to wear it in the eye Sunglasses. In order to disguise the blackhead in the eye itself, contact lenses are worn!

1. Surgical treatment

  • plastic surgery (removed by stitching);
  • photocoagulation - prescribed for complicated damage to the optic nerve;
  • prosthetics – replacement of a defective lens;
  • collagenoplasty to prevent an increase in the convexity of the eyeball;
  • eyelid surgery;
  • Blepharoplasty is used for eyelid coloboma.

2. Drug treatment

  • Tear substitute drops;
  • for glaucoma, it is necessary to take medications that reduce intraocular pressure;
  • in case of reduced vision, the specialist prescribes glasses or lenses with the appropriate number of diopters;
  • in case of retinal detachment, a photocoagulation procedure around the coloboma is required;
  • For maintenance therapy, the use of multivitamin complexes, lutein, and herbs that have a beneficial effect on the condition of the eyes is prescribed: blueberry leaves, chamomile, linden.

3. Collagenoplasty

An artificial frame is created from a collagen-like substance, which prevents the eyeball from enlarging and subsequently increasing the defect.

Diagnostics

When you discover suspicious signs that are associated with the visual apparatus, you should immediately contact an experienced specialist in this field, an ophthalmologist.

This will allow you to detect diseases in time, as well as prescribe correct treatment and therapy that will allow you to get rid of the unwanted disease.

Surgeries for congenital coloboma of the eyelid are possible starting from 1 year of age. We have accumulated a wealth of experience in providing necessary assistance, a variety of treatment methods have been developed, including gentle and very effective surgical methods treatment of this visual anomaly.

Complications

  • Progressive expansion of the excavation even with normal intraocular pressure with thinning of the neural belt.
  • Retinal disinsertion.
  • When this disease is accompanied by chorioretinal coloboma, rhegmatogenous retinal detachment may occur.

Prevention

No specific measures have been developed to prevent the development of coloboma. For prevention, it is recommended to use mesh glasses or tinted contact lenses with a transparent center of the disorder.

Patients with primary manifestations of this pathology need to be examined by an ophthalmologist twice a year with mandatory visometry, biomicroscopy and fundus ophthalmoscopy.

If the eyeball is slightly split, then the prognosis for life is favorable. Extensive damage can lead to reduced visual acuity to the point of blinding, which can lead to disability.

Conclusion

Coloboma disease can be either congenital or acquired through injury. It appears with diseases such as cleft lip or cleft palate (cleft palate).


Coloboma of the eyelid against the background of other malformations in men

This disease can be treated mainly by surgery, in some cases it is prescribed drug treatment. People with this disease wear sunglasses or contact lenses.

Once the disease is discovered, it can be treated until complete recovery, the main thing is not to let it go!

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