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 SymptomsIt 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). 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. 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.
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.