Albinism is a rare genetic disorder that causes a lack of pigmentation in the skin, hair, and eyes. It is caused by mutations in genes that control the production of melanin, the pigment that gives color to the skin, hair, and eyes. There are several types of albinism, and each type can be caused by different mutations. The rarest type of albinism is oculocutaneous albinism type 4 (OCA4).
Symptoms of OCA4
People with OCA4 have light or white skin and hair, and very light blue or gray eyes. They may also have vision problems such as myopia (nearsightedness), astigmatism, and photophobia (sensitivity to light). They may also have nystagmus (involuntary eye movements) and strabismus (crossed eyes).
Causes of OCA4
OCA4 is caused by mutations in the SLC45A2 gene, which is responsible for the production of the protein tyrosinase. Tyrosinase helps the body make melanin, the pigment that gives color to the skin, hair, and eyes. Mutations in this gene can cause a lack of tyrosinase, resulting in a lack of melanin production and the symptoms of OCA4.
Treatment of OCA4
There is no cure for OCA4, but there are treatments that can help manage the symptoms. These include wearing protective clothing to protect the skin from the sun, wearing sunglasses to reduce sensitivity to light, and using artificial tears to lubricate the eyes. In some cases, surgery may be recommended to correct vision problems.