- Source: Oculocutaneous albinism
Oculocutaneous albinism is a form of albinism involving the eyes (oculo-), the skin (-cutaneous), and the hair.
Overall, an estimated 1 in 20,000 people worldwide are born with oculocutaneous albinism. OCA is caused by mutations in several genes that control the synthesis of melanin within the melanocytes.
Seven types of oculocutaneous albinism have been described, all caused by a disruption of melanin synthesis and all autosomal recessive disorders.: 864 Oculocutaneous albinism is also found in non-human animals.
Types
The following types of oculocutaneous albinism have been identified in humans.
See also
Piebaldism
List of skin conditions
List of cutaneous conditions associated with increased risk of nonmelanoma skin cancer
References
External links
Oculocutaneous albinism information at RareDiseases.org
NCBI Genetic Testing Registry
Kata Kunci Pencarian:
- Tirosinase
- Oculocutaneous albinism
- Albinism
- Albinism in humans
- Oculocutaneous albinism type I
- Ocular albinism
- Chédiak–Higashi syndrome
- P protein
- Albinism in popular culture
- List of diseases (O)
- Guna people