Clinical and molecular findings in three Lebanese families with Bietti crystalline dystrophy: report on a novel mutation.

ABSTRACT:

Purpose

Bietti crystalline dystrophy (BCD) is a rare autosomal recessive disorder caused by mutation of the cytochrome P450, family 4, subfamily V, polypeptide 2 (CYP4V2) gene and characterized by retinal pigmentary abnormalities and scattered deposits of crystals in the retina and the marginal cornea. The aim of this study was to investigate the spectrum of mutations in CYP4V2 in Lebanese families, and to characterize the phenotype of patients affected with BCD.

Methods

Nine patients from three unrelated Lebanese families were clinically and molecularly investigated. Detailed characterization of the patients' phenotype was performed with comprehensive ophthalmic examination, color vision study, fundus photography, visual field testing, retinal fluorescein angiography, elect

SUBMITTER: Haddad NM 

PROVIDER: S-EPMC3351416 | biostudies-literature | 2012

REPOSITORIES: biostudies-literature