Coloboma

A Coloboma represents a special form of cleft formation in the eye. The cleft formation is either congenital or was acquired in the course of life. The coloboma affects either the iris or the iris, the choroid or the lid of the eye.

What is a coloboma?

Colobomas cannot be treated and can only be concealed cosmetically by wearing appropriate contact lenses. Associated visual field losses cannot be treated either.
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At a Coloboma it is a gap in the area of ​​the eye. The term comes from the Greek and means something like "mutilation". The gap formation either exists from birth or was later acquired through various causes.

In the majority of cases, the term coloboma is used in the field of ophthalmology. For this reason, the exact name for the disease is ocular coloboma. In principle, the coloboma is inherited in some cases, in other people the gap only develops later.

In a typical coloboma, the gap appears in the form of a keyhole on the iris, more precisely on the so-called inferonasal underside. In addition to the iris coloboma, there are also the eyelid coloboma, the papillary coloboma, the lens coloboma and a special coloboma on the background of the eye.

causes

The potential causes of a coloboma differ primarily depending on whether it is a congenital or an acquired coloboma. In the majority of cases of congenital coloboma, an error has occurred in the development of the embryo. Gap formation occurs as the eye develops.

This undesirable development is counted among the so-called inhibition malformations. As a result of faulty controls, the eye cup gap does not close completely after the invagination (medical term "invagination") has ended. Normally, the vesicle closes to form the so-called eye cup.

In most cases, the eye cup gap in embryos is nasal downwards. For this reason, congenital forms of iris coloboma often also point downwards in the nasal direction. Depending on the individual gap formation, one or more areas of the eye are affected by the malformation. The eye develops in the unborn child between the 4th and 15th week of pregnancy.

If the cleft of the eye cup is not completely closed during this time, a coloboma forms. The gap formation affects either one eye or both eyes. In addition, a coloboma occurs in numerous cases together with microphthalmia. This is an abnormally smaller eyeball.

The malformation that ultimately leads to the development of a coloboma is triggered in many cases, for example by drugs or other chemical substances. The substance Contergan in particular has proven to be particularly dangerous in this context. In addition, there are some hereditary factors that may favor the formation of gaps in the eye.

These include, for example, the cat's eye syndrome, trisomy 13, Charge syndrome, Cohen syndrome and Lenz syndrome. In addition, in some cases the gap formation occurs as a spontaneous disturbance in the development of the eye. In numerous cases, however, the specific cause of a congenital coloboma remains unclear.

In some cases, a mutation in the so-called Pax gene is responsible for the deformity in the eye. In this case, inheritance is likely to be autosomal recessive, autosomal dominant or X-linked. Because of this, colobomas are more common in certain families. In principle, however, the fissures appear rather sporadically, whereby various unexplained environmental conditions can be assumed that have an influence on the undesirable development.

In addition, in some cases, the coloboma is linked to various other diseases or syndromes. These include, for example, various neurological or systemic developmental malformations, such as Klinefelter's syndrome, Noonan's syndrome, Hirschsprung's disease and skeletal malformations.

Congenital colobomas have an estimated frequency of 0.6 per 10,000 births. Consequently, it is a rather rare disease. Acquired colobomas, on the other hand, are the result of external violence in the majority of cases.

Such effects are possible, for example, in connection with surgical interventions on the eye or accidents. As a result, the gap forms on the iris, the eyelid or other areas of the eye.

Symptoms, ailments & signs

If there is a coloboma, the affected people suffer from various typical symptoms and complaints. In principle, the eyesight depends on the severity of the gap formation. Thus, completely asymptomatic colobomas are also conceivable.

Many affected patients suffer from too bright light because the regulating ability of the iris is impaired. Large colobomas, which are located on the optic nerve or retina, can lead to a loss of visual field (medical term "scotoma") or blurred vision. Coloboma rarely leads to blindness.

Diagnosis & course of disease

If people suffer from characteristic symptoms, a suitable specialist should be consulted. Colobomas are usually relatively easy to diagnose because they have a typical appearance. After discussing the medical history, the attending physician conducts clinical examinations on the eye and tests the patient's vision.

Complications

In most cases, the coloboma causes various complaints or complications in the patient's eyes. These complaints can limit the everyday life and the life of the person affected and significantly reduce the quality of life. In the worst case, the affected person can go completely blind.

However, the extent of the eye discomfort depends heavily on the size of the coloboma and its severity. In most cases there is a strong incidence of bright light, so that the iris is damaged by this incidence. It can also lead to various paralyzes and disorders of the sensitivity in the face, which can also restrict the everyday life of the person concerned.

Paralysis can become noticeable in the area of ​​the mouth, so that the patient may have to rely on the help of other people in everyday life to be able to cope with it. However, life expectancy is reduced by a coloboma.

In many cases, loss of vision or complete blindness leads to depression and other mental health problems. Unfortunately, a coloboma cannot be treated. If the complaint is purely cosmetic, the coloboma can also be removed. However, the paralysis in the visual field cannot be treated.

When should you go to the doctor?

People who experience decreased vision after surgery or after taking certain drugs should consult their family doctor. People with the cat's eye syndrome, trisomy 13 and other hereditary diseases also belong to the risk groups and should consult a doctor closely. A doctor's visit is necessary if the symptoms do not go away on their own. If there are other symptoms such as visual field loss or eye pain, an ophthalmologist should be consulted.

In the event of complications such as blindness or paralysis in the area of ​​the mouth, it is best to take the affected person to a hospital immediately. If there is an acute risk of falling, the coloboma must be examined and treated. Since a causal treatment is not possible, the patient must regularly consult a doctor and adjust the medication. In addition, an optician should be consulted. The external blemishes can be corrected with suitable contact lenses. The eyesight itself cannot be treated therapeutically. Nevertheless, the eyesight must be checked regularly so that any worsening of the coloboma can be detected early.

Treatment & Therapy

Colobomas cannot be treated and can only be concealed cosmetically by wearing appropriate contact lenses. Associated visual field losses cannot be treated either.

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Outlook & forecast

The prognosis of the coloboma depends on the extent of the damage suffered and must therefore be based on the individual circumstances. First it must be clarified whether it is a congenital or acquired disorder. In the case of congenital abnormalities of the eye, an operation is usually carried out in the first few weeks or months of life. However, all symptoms can often only be fully clarified in the further development of the child. Naturally, an infant cannot fully respond to questions and tests.

In most cases, a comprehensive diagnosis of an acquired disorder in the course of life is easier and faster. The optical changes and abnormalities of the eye can only be changed by a surgical procedure. Spontaneous healing is not to be expected with this disease. Cosmetic surgery is associated with various risks and side effects. If an operation proceeds without further complications, the gap formation has usually been optimized. However, impaired vision can only rarely be fully regenerated.

A large number of patients experience psychological states of stress due to the coloboma. In addition to mood swings and changes in personality, secondary diseases are possible. If depression is also diagnosed, this must be taken into account when making the overall prognosis.

prevention

Since colobomas are congenital in most cases, there are no effective measures to prevent the malformation. If you experience typical symptoms, you should consult a doctor.

Aftercare

Follow-up care is generally designed to prevent the disease from recurring. However, this does not apply to a coloboma. The congenital or acquired cleft formation of the eye is permanent. Patients have to live with typical complaints such as visual field defects. They cannot be corrected. However, aftercare can provide various types of aids.

For example, some people have mental health problems due to the illness. The sense of life can also be clouded by the impairment of eyesight. With therapy, doctors can support those affected in their everyday life and show them private and professional opportunities. The cosmetic problem can still be resolved with special contact lenses and glasses. This reduces elementary complications to a minimum.

Ophthalmologists recommend that the affected eyes be checked regularly. This enables secondary diseases to be addressed at an early stage. A rhythm is agreed individually. Because the iris can be further damaged by the incidence of light. The result is blindness, retinal detachment or glaucoma.

Furthermore, paralysis of the face has been proven in certain people. Follow-up care aims to stabilize the disease - but without being able to address the actual cause. It is about permanent everyday support, through which patients realize a high degree of independence.

You can do that yourself

The patients with a coloboma on the eye suffer from physical as well as emotional and cosmetic complaints. The gap in the iris, which is typical for colobomas, is also noticed by other people and therefore often leads to uncertainty or even inferiority complexes in the patient. These reduce the quality of life of those affected and, in the worst case, lead to depression. If people with coloboma increasingly suffer from mental problems due to the visual abnormality, they seek out a psychotherapist in their own interest.

In order to hide the gap in the eye, special contact lenses are available, which at least optically cover the coloboma and thus make it invisible to other people. With regard to physical complaints, it is above all bright light that troubles the patient. In order to improve one's own quality of life, we recommend special glasses that patients wear regularly.

Conventional sunglasses with darkened lenses can be used to reduce glare. Special glasses are also possible, which adapt their lens color to the brightness of the surrounding light and are a good choice for many people affected. In severe cases, the coloboma results in visual field defects and blindness, with which the patients come to terms with suitable measures such as care offers.