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

Nature Genetics volume 9, pages 92–95 (1995)Cite this article

Abstract

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 allele containing a ‘normal’ polymorphism, Arg402Gln, which results in a tyrosinase polypeptide with reduced thermal stability. In these patients, AROA thus appears to represent a clinically mild form of OCA1, with a fixed visual deficit resulting from low tyrosinase activity during fetal development but with normal pigmentation of the skin and hair postnatally.

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Authors and Affiliations

  1. Departments of Medical Genetics and Pediatrics, University of Wisconsin, Madison, Wisconsin, 53706, USA

    Kazuyoshi Fukai, Stuart A. Holmes & Richard A. Spritz

  2. Davis Duehr Eye Associates, Madison, Wisconsin, 53715, USA

    Neil J. Lucchese

  3. Department of Pediatrics, University of Western Ontario, London, Ontario, Canada

    Victoria Mok Siu

  4. Department of Ophthalmology and Molecular and Medical Genetics, Oregon Health Sciences University, Portland, Oregon, 97201-4197, USA

    Richard G. Weleber

  5. Departments of Pediatrics and Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, 19104, USA

    Rhonda E. Schnur

Authors
  1. Kazuyoshi Fukai
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  2. Stuart A. Holmes
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  4. Victoria Mok Siu
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  6. Rhonda E. Schnur
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  7. Richard A. Spritz
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Fukai, K., Holmes, S., Lucchese, N. et al. Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism. Nat Genet 9, 92–95 (1995). https://doi.org/10.1038/ng0195-92

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