Neha Patil (Editor)

Oculocutaneous albinism

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Specialty
  
endocrinology

ICD-9-CM
  
270.2

ICD-10
  
E70.3

MeSH
  
D016115

OMIM
  
203100 203200 203290 606574

GeneReviews
  
Oculocutaneous Albinism Type 1 Oculocutaneous Albinism Type 2 Oculocutaneous Albinism Type 4

Oculocutaneous albinism (OCA) is a form of albinism involving the eyes (oculo-), the skin (-cutaneous), and according to some definitions, 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. Four types of oculocutaneous albinism have been described, all caused by a disruption of melanin synthesis and all autosomal recessive disorders.

References

Oculocutaneous albinism Wikipedia