Albinism

By Will Eller

Name and Cause

Albinism is also commonly known as Hermansky-Pudlak syndrome and Ocular albinism. Albinism is caused from a mutation in the tyrosinase gene which makes pigment. You must have a mutation in both of the tyrosinase genes in order to be albino. The mutation occurs on the X chromosome.

Tests and Symptoms

There are prenatal tests for albinism disorder. There are many symptoms that can show that you have the mutation. Such as no color in hair or skin, and sensitive skin. Multiple symptoms involve the eye such as having crossed eyes, color loss in the eye, rapid movements throughout the eye, and even some cases of vision problems resulting in blindness. Sadly there are no cures or treatments for albinism. There are no new treatments or cures being developed as of now.

Facts

One in seventeen thousand are affected by some form of albinism. Albinism is inherited therefore, genetic counseling is really only prevention. There is no treatment but, thankfully it does not worsen over time. Therefore, the child will not need assistance as they get older. However, in some cases albinism can cause cancer in the long run. Albinism occurs from two recessive genes. The affected organism needs to protect its eyes and skin to prevent burns. Albinism does not affect whether or not you can have kids. The kids will however, have the chance of the gene being expressed.