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Article

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

Molecular vision - 1 Jan 2012

Haddad Nour Maya N, Waked Naji, Bejjani Riad, Khoueir Ziad, Chouery Eliane, Corbani Sandra, Mégarbané André

Abstract excerpt

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...

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PMID: 22605929
PMCID: PMC3351416

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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