Albinism - Causes and Signs of Albinism

Based on the phenotypic expression, the deviation is divided into ocular and oculocutaneous.

Oculocutaneous albinism (OCA) is the most common and manifests itself in several subtypes.

• First (OCA 1). A distinction is made between 1A - the pigment melanin is completely absent and 1B, when it is produced in insufficient quantities.
• Second (OCA 2). The most common form, its characteristics are variable, in which the race of the person plays an important role.

• Third (OCA 3). This form of oculocutaneous pathology in children and adults is quite rare. People differ significantly from "classic" albinos.

The ocular form is almost not manifested externally. The dermis and hair look only slightly lighter than that of relatives. Distinctive features of this type in most cases are only in the defects of the eye.

Causes

The conditions of occurrence are hidden in heredity. One of the parents necessarily suffered from such a deviation. The main characteristics are in the form of an abnormal color of the epidermis, hair, eyes and are determined from the first day of life. It is likely that the child will experience severe discomfort during exposure to the sun or in bright light indoors. Despite modern improvements in medicine, this condition has not been fully studied. Today, the only condition for the origin of the defect is heredity, therefore, there is no possibility of prevention.

Symptoms

The main presentation of the disease is considered to be a violation of the pigmentation of the body, hair, in addition, a noticeable chaotic rapid movement of the eyes, similar to flickering. The effect of rays does not cause a tan, but serious injuries, so such people are quite limited in their choice of place of residence.

Often, a special form of anomaly is inherent, not affecting the epithelium and hair, but manifests itself only on the retina, which cannot fully develop without melanin. The lack of this component affects the presence of full visual perception. The direction of gaze periodically changes involuntarily, and transparency of the iris, deterioration of vision towards astigmatism, strabismus, myopia or hyperopia are observed, which requires consultation and therapy with an ophthalmologist.

The consequences include pathologies of vision, sensitivity of the outer integuments to direct sunlight and its manifestation as burns, as well as cancer of the epidermis, premature aging and early death.

Diagnostics

A complete medical examination should include:

• initial examination;
• an accurate description of pigmentation changes;
• a complete eye examination;
• comparison of the patient's pigmentation with other family members.

Treatment

The development of therapy methods in modern medicine does not allow to get rid of such an anomaly. Often, a specialist cannot prevent any of the changes in the surface of the body or the retina, but regular monitoring is necessary.

Sometimes, surgical intervention is needed to correct visual dysfunctions.

Prevention

As such, there is no prevention, but to protect the dermis and eyes from UV rays, it is necessary to exclude exposure to the sun, and also wear sunglasses.