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Albinism is a defect of melanin production. Melanin is a natural substance in the body that gives color to your hair, skin, and iris of the eye. Causes Albinism occurs when one of several genetic defects makes the body unable to produce or distribute melanin. These defects may be passed down (inherited) through families. The most severe form of albinism is called oculocutaneous albinism. People with this type of albinism have white or pink hair, skin, and iris color. They also have vision problems. Another type of albinism, called ocular albinism type 1 (OA1), affects only the eyes. The person's skin and eye color are usually in the normal range. However, an eye exam will show that there is no coloring in the back of the eye (retina). Hermansky-Pudlak syndrome (HPS) is a form of albinism caused by a change to a single gene. It can occur with a bleeding disorder, as well as with lung and bowel diseases. Symptoms A person with albinism will have one of these symptoms: No color in the hair, skin, or iris of the eye Lighter than normal skin and hair Patches of missing skin color Many forms of albinism are associated with the following symptoms: Crossed eyes Light sensitivity Rapid eye movements Vision problems, or functional blindness Exams and Tests Genetic testing offers the 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. Your health care provider may also diagnose the condition based on the appearance of your skin, hair, and eyes. An eye doctor called an ophthalmologist may perform an electroretinogram. This is a test that can reveal vision problems related to albinism. A test called a visual evoked potentials test can be very useful when the diagnosis is uncertain. Treatment The goal of treatment is to relieve symptoms. It will depend on how severe the disorder is. Treatment involves protecting the skin and eyes from the sun. To do this: Reduce sunburn risk by avoiding the sun, using sunscreen, and covering up completely with clothing when exposed to the sun. Use sunscreen with a high sun protection factor (SPF). Wear sunglasses (UV protected) to help relieve light sensitivity. Glasses are often prescribed to correct vision problems and eye position. Eye muscle surgery is sometimes recommended to correct abnormal eye movements. #albinism #melanin #geneticDefects #Genetics #lawOfProbability #statistics #DNA #OculocutaneousAlbinism #AlbinismGenetics #AlbinismExplained #AlbinismEyes #AlbinismNystagmus #AlbinismDisease #AlbinismTypes #OculocutaneousAlbinismType1 #AlbinismPathogenesis #AlbinismUSMLE #AlbinismSubtypes #JJMedicine #NikolaysGeneticsLessons #documentary #science #Albino #redEyes #genes #albinoPeople #albinosInAfrica #albinoAfrica #anAlbino #albinos #pigmentation
