Article
Molecular screening of the CYP4V2 gene in Bietti crystalline dystrophy that is associated with choroidal neovascularization.
Molecular vision - 1 Jan 2011
Mamatha Gandra, Umashankar Vetrivel, Kasinathan Nachiappan, Krishnan Tandava, Sathyabaarathi Ravichandran, Karthiyayini Thirumalai, Amali John, Rao Chetan, Madhavan Jagadeesan
Abstract excerpt
PURPOSE: Bietti crystalline dystrophy (BCD) is an autosomal recessive disease characterized by intraretinal deposits of multiple small crystals, with or without associated crystal deposits in the cornea. The disease is caused by mutation in the cytochrome p450, family 4, subfamily v, polypeptide 2 (CYP4V2) gene. Choroidal neovascularization (CNV) is a rare event in BCD. We report two cases of BCD associated with...
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