Albinism

Oculocutaneous albinism (OCA) & Ocular albinism (OA)

-OCA type I (complete absence of pigment)

& OCA type II (decreased amount of pigment; mostly among African descent)

-Ocular albinism (OA) = only affect eyes.

# WHAT HAPPENS TO THE BODY? #

#People with different types of albinism#

# Symptoms & Effects #

1) How common is albinism?

1/ 20000 for OCA

1/60000 males for OA

2) Specific locations for chromosomes?

3) What happened in the body to cause the disease?

OCA: not sex-linked

neither of these genes is functional.

OA: x-linked

4) Mutation? Caused by other factors?

OCA1: tyrosinase gene

OCA2: mutations cause the p protein not function

more than 80 mutations have been identified

eg. changes in single DNA building blocks and small deletions/ or complete genes deletion.

OA:

mutations in the GPR143 --> alter the size and the shape --> prevent the protein from reaching melanosomes.

5) How albinism is diagnosed?

DNA analysis

6) Any treatment?

patients’ vision can be improved by using the substance L-Dopa (levodopa) to turn on a receptor in the retina