Iris hyperpigmentation in a Chinese family with ocular albinism and the GPR143 mutation

Authors

  • Xueshan Xiao,

    1. State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China
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  • Qingjiong Zhang

    Corresponding author
    1. State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China
    • Pediatric and Genetic Eye Clinic, Zhongshan Ophthalmic Center, Sun Yat-sen University, 54 Xianlie Road, Guangzhou 510060, China.

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  • How to cite this article: Xiao X, Zhang Q. 2009. Iris hyperpigmentation in a Chinese family with ocular albinism and the GPR143 mutation. Am J Med Genet Part A 149A:1786–1788.

Abstract

X-linked ocular albinism (OA1) is the most common form of ocular albinism. Affected males are characterized by nystagmus, impaired visual acuity, iris hypopigmentation with translucency, fundus hypopigmentation, macular hypoplasia, and normally pigmented skin and hair. However, OA1 has rarely been reported in China. Here, we report on a Chinese family with OA1 and partial deletion of GPR143. An unusual phenotype of iris hyperpigmentation without translucency was observed in the male patient and the carrier mother. There was apparent mosaic pigmentation of the fundus. Our results demonstrate atypical manifestation of OA1 that might enrich our knowledge of phenotypic variation of OA1 among the Chinese population. © 2009 Wiley-Liss, Inc.

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