Causes of Albinism

Albinism is a disease in which a person has or complete loss of pigmentation (coloring) of the skin, eyes and hair.

Genetic mutations that affect the production of a pigment called melanin. There is a cell called the melanocyte that is responsible for giving skin, hair and eyes pigmentation.

People with albinism are legally blind because photoreceptors (cells in the retina that detect light) get over saturated with light and send confusing messages to the brain.

If you look at a person with albinism, you will see a nystagmus, or fluttering, in their eyes are sort of bouncing in their sockets because they are getting a confusing visual stimulus.

INHERITANCE

Most types of albinism are inherited in an autosomal recessive inheritance pattern, the exception being X-linked ocular albinism which passed on in an X-linked inheritance pattern.

With autosomal recessive inheritance, an individual must receive faulty copies of a gene from the mother and father to develop albinism.

Hermansky-pudlak syndrome
This syndrome is a rare form of albinism that's due to a detect in one of eight genes.

It produces symptoms similar to OCA. The syndrome occurs with lung, bowel, and bleeding disorders.

Patients with albinism are advised to protect themselves from the sun.
Depending on the mutation, melanin production can either be glowed or completely stopped.

But regardless of the amount of interference with melanin production, there are always associated problems with the visual system in albinism.

These vision problems occur because of melanin's vital role in the development of the retina and optic nerve pathways from the eye to the brain.