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Article

Recessive mutations in the CYP4V2 gene in East Asian and Middle Eastern patients with Bietti crystalline corneoretinal dystrophy.

Journal of medical genetics - 1 Jun 2005

Lin J, Nishiguchi K M, Nakamura M, Dryja T P, Berson E L, Miyake Y

Abstract excerpt

BACKGROUND: Bietti crystalline corneoretinal dystrophy (BCD) is an autosomal recessively inherited disorder characterised by tiny yellowish glittering retinal crystals, choroidal sclerosis, and crystals in the peripheral cornea, associated with progressive night blindness. CYP4V2, encoding a member of cytochrome p450 (CYP450) protein family, was recently identified as the causative gene. METHODS: We recruited 11...

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Share to Corneal Dystrophies, Hereditary
Share to Cytochrome P-450 Enzyme System

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cytochrome P450 Family 4

Share to Genes, Recessive

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Share to Pigment Epithelium of Eye

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Identifiers

PMID: 15937078
DOI: 10.1136/jmg.2004.029066
PMCID: PMC1736086

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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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