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Pigment distribution in Waardenburg's syndrome: a new hypothesis

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Abstract

Two cases of Waardenburg's syndrome are presented. The first case is an example of Waardenburg's type II (without dystopia canthorum) with bilateral sectoral iris heterochromia and fundus bicolor, hyperpigmented skin patches, characteristic fades and deafness. The second case is an example of Waardenburg's type I (with dystopia canthorum) with complete iris heterochromia and characteristic facies. Bilateral glaucoma was also present in the second case. Previously unrecognized details of iris architecture in Waardenburg's syndrome are described. Pigmentation anomalies of the skin are also discussed. It is hypothesized that the ocular pigmentary disturbance in Waardenburg's syndrome is widespread and involves the hyperchromic as well as the hypochromic areas of the eyes. A possible association with glaucoma might be explained by such a hypothesis.

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Authors and Affiliations

  1. Department of Ophthalmology and Visual Sciences, Texas Tech University Health Sciences Center, 79430, Lubbock, TX, USA

    T. M. Nork, Z. M. Shihab, R. S. L. Young & J. Price

Authors
  1. T. M. Nork
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  2. Z. M. Shihab
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  3. R. S. L. Young
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  4. J. Price
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Additional information

This work was supported in part by Research to Prevent Blindness, Inc., New York, New York, and by Grant No. 5 RO1 EY02157-02, from the National Eye Institute, National Institutes of Health, and the Veterans Administration

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Nork, T.M., Shihab, Z.M., Young, R.S.L. et al. Pigment distribution in Waardenburg's syndrome: a new hypothesis. Graefe's Arch Clin Exp Ophthalmol 224, 487–492 (1986). https://doi.org/10.1007/BF02154734

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  • DOI: https://doi.org/10.1007/BF02154734

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