January 28, 2015

Causes of albinism

Albinism-symptoms-and-what-is-albinismAlbinism is caused by a mutation in one of several different genes involved in making the pigment melanin.

Types and categories of albinism

There are 2 main types of albinism.

  1. Oculocutaneous albinism [OCA]
  2. Ocular [OA]

OCA I is mostly an autosomal recessive disorder whereas OA is transmitted as a sex linked or autosomal recessive disease.

OA is divided into 10 different types. Two of the more common forms are type 1 tyrosinase-negative and type 2 turosinase-positive. OCA patients with type 1 have no skin or ocular pigmentation, whereas those with type 2 disease can develop some pigmentation as they grow older. However there are several other types of albinism caused by several genes. In one form of albinism, 1 the Hermansky-Pudlock syndrome [HPS] which is caused by a single gene there can be problems with bleeding and with lung and bowel disease as well. This syndrome is far less common form of albinism, other common complex diseases- such as Chediak – Hagashi syndrome [lack of colouring all over the skin] but not complete and tuber sclerosis [small areas without skin colouring] may lead to lack of colouring especially

White or light blond hair, violet to blue eyes, very pale skin that is particularly sensitive to the sun. Without sufficient melanin, our eyes are unable to function properly and nerve connections to the brain are also altered. We, as People with albinism are therefore often characterized by long-sleeved clothing, hats and prescription glasses as a measure of protection against the sun.

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