Article
Identification of CYP4V2 mutation in 36 Chinese families with Bietti crystalline corneoretinal dystrophy.
Experimental eye research - 1 May 2016
Yin Xiaobei, Yang Liping, Chen Ningning, Cui Hui, Zhao Lin, Feng Lina, Li Aijun, Zhang Huirong, Ma Zhizhong, Li Genlin
Abstract excerpt
Bietti crystalline corneoretinal dystrophy (BCD) is an inherited eye disease that is most common in the Chinese. It is caused by a mutation in the CYP4V2 gene. In this study, 43 Chinese BCD families were recruited; most patients manifested the characteristic phenotype of BCD, with 2 families initially misdiagnosed with retinitis pigmentosa. Five patients in our cohort presented with BCD and choroidal...
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