Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism

@article{Fukai1995AutosomalRO,
  title={Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism},
  author={K. Fukai and S. Holmes and N. Lucchese and V. Siu and R. Weleber and R. Schnur and R. Spritz},
  journal={Nature Genetics},
  year={1995},
  volume={9},
  pages={92-95}
}
  • K. Fukai, S. Holmes, +4 authors R. Spritz
  • Published 1995
  • Biology, Medicine
  • Nature Genetics
  • Autosomal recessive ocular albinism (AROA) is a disorder characterized by reduced pigmentation of the retina and iris, hypoplastic fovea, variably reduced visual acuity and nystagmus. Pigmentation of the skin and hair is normal, but is usually slightly lighter than in unaffected sibs. We analysed 12 unrelated patients with AROA, and found that two had abnormalities of the tyrosinase (TYR) gene. These two patients were each a compound heterozygote for a different pathologic mutant allele and an… CONTINUE READING
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