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Type 1 Oculocutaneous albinism (tyrosinase negative)

The worldwide prevalence of oculocutaneous albinism type 1 (OCA1) is estimated at 1/40,000.

The phenotyes observed in OCA1 are variable. The pigmentation present in the skin, hair and eyes can vary from little or no pigmentation to pigmentation only in the peripheries. Nystagmus, photophobia and reduced visual acuity occur frequently.

OCA1 is caused by a mutation in the TYR gene located on chromosome 11q14.3 which codes for tyrosinase.

Genetic counseling is advised since the different forms of OCA1 are inherited with an autosomal recessive pattern.

 

Gene or region studied

  • TYR
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