Pathophysiology It is also called as achromia, achromasia, or achromatosis. Albinism is a rare group of genetic disorders that cause the skin, hair, or eyes to have little or no colour. Albinism is also associated with vision problems. Albinism is caused by a defect in one of several genes that produce or distribute melanin (natural pigment). The defect may result in the absence of melanin production, or a reduced amount of melanin production. Albinism is inherited and requires the defective gene to be passed down by both parents Symptoms include apparent in a person's skin, hair and eye colour. They include Absence of colour in the hair, skin, or iris of the eye, Lighter than normal skin and hair, Patchy, missing skin colour.
Genetic testing can give most accurate way to diagnose albinism. Such testing is helpful if you have a family history of albinism. It is also useful for certain groups of people who are known to get the disease. Doctor may also diagnose the condition based on the appearance of yourskin, hair, and eyes. An ophthalmologist may perform an electroretinogram, which is a test that can reveal vision problems related to albinism. Because albinism is a genetic disorder, treatment is limited.
Many forms of albinism are associated with the following symptoms: Crossed eyes (strabismus), Light sensitivity (photophobia), Rapid eye movements (nystagmus), Vision problems, or functional blindness associate degree medical specialist might perform associate degree graph, which may be a test which will reveal vision problems associated with albinism. as a result of congenital anomaly may be a genetic disease, treatment is proscribed. Therefore treatment involves protecting the skin and eyes from the sun: Reduce sunburn risk by avoiding the sun, victimisation ointment, and covering up fully with wear once exposed to the sun. We should use Sunscreen to have a high sun protection factor (SPF), Sunglasses (UV protected) may relieve light sensitivity.