Xiao Xueshan, Zhang Qingjiong
Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China.
Am J Med Genet A. 2009 Aug;149A(8):1786-8. doi: 10.1002/ajmg.a.32818.
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.
X连锁眼部白化病（OA1）是眼部白化病最常见的形式。受影响的男性特征为眼球震颤、视力受损、虹膜色素减退伴半透明、眼底色素减退、黄斑发育不全，以及皮肤和头发色素正常。然而，OA1在中国鲜有报道。在此，我们报告一个患有OA1且GPR143部分缺失的中国家系。在男性患者和携带者母亲中观察到一种不寻常的虹膜色素沉着过度且无半透明的表型。眼底有明显的镶嵌色素沉着。我们的结果证明了OA1的非典型表现，这可能丰富我们对中国人群中OA1表型变异的认识。
