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Xiao-yun Jia, Xueshan Xiao, Shiqiang Li, Xiangming Guo, Qingjiong Zhang; Ocular Albinism in Chinese: Atypical Signs Are the Typical Phenotypes. Invest. Ophthalmol. Vis. Sci. 2011;52(14):2385.
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Mutation in GPR143 is responsible for ocular albinism type I (OA1, OMIM 300500). OA1 is rarely reported in Chinese and is potentially diagnosed as other diseases. Recognizing the genotype-phenotype characteristics of OA1 in Chinese may be of help in understanding this disease.
Mutations in GPR143 were identified and the associated clinical data were carefully reanalyzed.
All patients had recognizable but atypical albinotic clinical signs indicating OA1 by careful observation. Such signs are atypical hypopigmentation or hyperpigmentation in iris, mild-to-moderate hypopigmentation on fundus, and macular/foveal hypoplasia.
OA1 in Chinese could be easily neglected and misdiagnosed as other diseases in clinic due to atypical clinical signs compared with Caucasian. Understanding these ethnic-specific clinical signs may help the clinical practice in Chinese population. (firstname.lastname@example.org)
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