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Progress in the studies of molecular genetics in Bietti crystalline corneoretinal dystrophy

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Author:: No author available

Journal Title:: Chinese Journal of Ophthalmology

Issue:: 10

DOI:: 10.3760/cma.j.issn.0412-4081.2012.10.022

Key Word:: 角膜营养不良,遗传性;视网膜疾病;细胞色素P450酶系统;分子生物学;Corneal dystrophies,hereditary;Retinal diseases;Cytochrome P-450 enzyme system;Molecular biology

Abstract： CYP4V2,a relatively new member of human cytochrome P450 (P450) enzymes,is termed an "orphan" P450 because its substrate specificity and physiological roles are unknown.Mutations in the CYP4V2 gene is associated with an autosomal recessive inherited ocular disease named Bietti's crystalline dystrophy (BCD).The strong gene-disease associations provide unique opportunities for elucidating the substrate specificity of this orphan P450s and unraveling the biochemical pathways that may be impacted in patients with CYP4V2 functional deficits.

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