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Article

Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2.

American journal of human genetics - 1 May 2004

Li Anren, Jiao Xiaodong, Munier Francis L, Schorderet Daniel F, Yao Wenliang, Iwata Fumino, Hayakawa Mutsuko, Kanai Atsushi, Shy Chen Muh, Alan Lewis Richard, Heckenlively John, Weleber Richard G, Traboulsi Elias I, Zhang Qingjiong, Xiao Xueshan, Kaiser-Kupfer Muriel, Sergeev Yuri V, Hejtmancik J Fielding

Abstract excerpt

Bietti crystalline corneoretinal dystrophy (BCD) is an autosomal recessive retinal dystrophy characterized by multiple glistening intraretinal crystals scattered over the fundus, a characteristic degeneration of the retina, and sclerosis of the choroidal vessels, ultimately resulting in progressi...

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Share to Chromosomes, Human, Pair 4
Share to Corneal Dystrophies, Hereditary

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cytochrome P-450 Enzyme System

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Source

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Identifiers

PMID: 15042513
DOI: 10.1086/383228
PMCID: PMC1181977

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-15042513-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

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Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2.PMID 15042513Read ↗

Novel mutations in the CYP4V2 gene associated with Bietti crystalline corneoretinal dystrophy.Semantic proximity Read ↗

Identification of CYP4V2 mutation in 21 families and overview of mutation spectrum in Bietti crystalline corneoretinal dystrophy.Semantic proximity Read ↗

Genetics of Bietti Crystalline Dystrophy.Semantic proximity Read ↗

Bietti crystalline corneoretinal dystrophy associated with CYP4V2 gene mutations.Semantic proximity Read ↗

Identification of CYP4V2 mutation in 36 Chinese families with Bietti crystalline corneoretinal dystrophy.Semantic proximity Read ↗

Characterization of Bietti crystalline dystrophy patients with CYP4V2 mutations.Semantic proximity Read ↗

Novel mutations in CYP4V2 in Bietti corneoretinal crystalline dystrophy: Next-generation sequencing technology and genotype-phenotype correlations.Semantic proximity Read ↗

Identification of novel CYP4V2 genotypes associated with Bietti crystalline dystrophy and atypical anterior segment phenotypes in Spanish patients.Semantic proximity Read ↗

Identification of novel CYP4V2 gene mutations in 92 Chinese families with Bietti's crystalline corneoretinal dystrophy.Semantic proximity Read ↗

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

New Compound Heterozygous CYP4V2 Mutations in Bietti Crystalline Corneoretinal DystrophySemantic proximity Read ↗

Longitudinal characterisation of function and structure of Bietti crystalline dystrophy: report on a novel homozygous mutation in CYP4V2.Semantic proximity Read ↗

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