Bietti crystalline corneoretinal dystrophy

Definition:

Bietti crystalline corneoretinal dystrophy (BCD) is an autosomal recessive retinal dystrophy characterized by crystalline deposits in the retina, followed by progressive atrophy of the retinal pigment epithelium (RPE), choriocapillaris, and photoreceptors. BCD usually occurs in the second or third decade of life. CYP4V2 has been identified as the causative gene for BCD.

References:

[1]. Anren Li, et al. Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2. Am J Hum Genet. 2004 May;74(5):817-26. [Content Brief]

[2]. Danny S C Ng, et al. Genetics of Bietti Crystalline Dystrophy. Asia Pac J Ophthalmol (Phila). 2016 Jul-Aug;5(4):245-52. [Content Brief]

[3]. J Lin, et al. Recessive mutations in the CYP4V2 gene in East Asian and Middle Eastern patients with Bietti crystalline corneoretinal dystrophy. J Med Genet. 2005 Jun;42(6):e38. [Content Brief]

[4]. Shu-Xing Ji, et al. Bietti crystalline dystrophy with bilateral macular holes. Retin Cases Brief Rep. 2009 Fall;3(4):361-3. [Content Brief]

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