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Wikipedia

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. 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

Tags

  • Albinism
  • Amino acid metabolism disorders
  • Autosomal recessive disorders