Research progress in Bietti crystalline corneoretinal dystrophy

Abstract

Bietti crystalline corneoretinal dystrophy (BCD) is an autosomal recessive retinal degenerative disease characterized by crystalline deposits in the retina, followed by progressive atrophy of retinal pigment epithelium (RPE), choriocapillaris and photoreceptors.CYP4V2 has been identified as causative gene for BCD.At present, multiple gene mutation sites have been found in BCD patients.CYP4V2 gene belongs to cytochrome P450, it participates in the ω-hydroxylase activity of polyunsaturated fatty acids (PUFAs). CYP4V2 proteins are mainly distributed in the RPE, docosahexaenoic acid (DHA) and eicosapentaenoic acid (EPA) as specific catalytic substrates, and play an important role in ocular physiological lipid recycling system.CYP4V2 gene mutations can disrupt the endogenous fatty acids or steroid synthesis and decomposition approach.The treatment of BCD always refers to retinitis pigmentosa (RP), and the study of mutation sites have provided the possibility for future gene therapy.Understanding the mechanism of molecular genetics and the pathophysiology of disease will be useful for the genetic diagnosis of BCD and potential development of genetic therapy in the future.This article reviewed the molecular genetic mechanism of BCD, in vivo expression and role of CYP4V2 in lipid metabolism and the treatment of BCD. Key words: Bietti crystalline corneoretinal dystrophy; Cytochrome P450; CYP4V2; Lipid metabolism; Treatment