Article
Novel mutations in the CYP4V2 gene associated with Bietti crystalline corneoretinal dystrophy.
Molecular vision - 12 Sept 2005
Shan Minghua, Dong Bing, Zhao Xueqin, Wang Jingzhao, Li Genlin, Yang Yongsheng, Li Yang
Abstract excerpt
PURPOSE: Bietti crystalline corneoretinal dystrophy (BCD) is an autosomal recessive disorder of retinal degeneration characterized by small glittering crystals in the corneal limbus, posterior pole of the eye, and circulating lymphocytes. Recently mutations in a new gene CYP4V2, encoding a protein belonging to a novel member of the cytochrome P450 family, have been identified as the cause of BCD. To further...
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