What is ocular albinism?

Ocular albinism is a genetic disorder in which a patient's eyes lack melanin, leading to vision problems. People often associate albinism with pale skin, white hair, and reddish to pink eyes, but people with ocular albinism generally have skin coloration close to that seen in the rest of their family, and often they have dyed hair and some color in their eyes. Patients can have blue, brown, or green eyes, depending on their genetics. In people with a very mild form of the condition, ocular albinism may not present a problem, while others may be legally blind and may have other symptoms such as hearing problems or deafness.

This condition is X-linked. The two genes known to have a connection to ocular albinism can be found on the X chromosome, and the condition is much more common in males. For women to have this condition, it is necessary to inherit two copies of the defective genes, and this is relatively unusual. Most women with the genes are simply carriers and do not experience any pigmentation changes in their eyes.

More than 10 forms of ocular albinism are known, resulting from the combination and expression of genes in various ways. Patients with this condition may have some missing pigmentation in the iris of the eye, but the real problem lies with the retina, specifically the highly sensitive area of ​​the retina known as the fovea. The fovea does not fully develop due to the reduction in melanin, and the patient will have vision problems as a result. Some people have almost perfect visual acuity, while others may have very poor vision without correction.

People with ocular albinism may also have optic nerve abnormalities. Some experience nystagmus, jerking uncontrolled eye movements, and strabismus, where the eyes don't move in sync with each other. Patients are also often sensitive to bright light and should be careful to wear sunglasses to protect their eyes.

Ocular albinism does not get worse over time. When a doctor diagnoses the patient, he or she can perform an evaluation to determine the extent of the problem. The patient's vision should remain stable, and the use of corrective lenses can help address symptoms. People with this condition who are concerned about passing it on to their children can meet with a genetic counselor to discuss the situation. The genetics behind this condition are complex, and children may be born without faulty genes or with a very mild form of the condition.

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