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.
Iris hyperpigmentation in a Chinese family with ocular albinism and the GPR143 mutation†
Version of Record online: 16 JUL 2009
Copyright © 2009 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 149A, Issue 8, pages 1786–1788, August 2009
How to Cite
Xiao, X. and Zhang, Q. (2009), Iris hyperpigmentation in a Chinese family with ocular albinism and the GPR143 mutation. Am. J. Med. Genet., 149A: 1786–1788. doi: 10.1002/ajmg.a.32818
- Issue online: 23 JUL 2009
- Version of Record online: 16 JUL 2009
- Manuscript Accepted: 26 JAN 2009
- Manuscript Received: 3 SEP 2008
- National Science Fund. Grant Number: 30725044
- ocular albinism type I (OA1);
- clinical manifestation;
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.