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Article

Genotype phenotype analysis of Bietti's crystalline dystrophy in patients with CYP4V2 mutations.

Investigative ophthalmology & visual science - 1 Nov 2007

Lai Timothy Y Y, Ng Tsz Kin, Tam Pancy O S, Yam Gary H F, Ngai Jasmine W S, Chan Wai-Man, Liu David T L, Lam Dennis S C, Pang Chi Pui

Abstract excerpt

PURPOSE: To evaluate the genotypic and phenotypic correlations of Bietti's crystalline dystrophy (BCD) in patients with the CYP4V2 gene by mutation screening and clinical and electrophysiological assessment. METHODS: Eighteen Chinese patients in 13 families with BCD were recruited for full ophthalmic examinations, optical coherence tomography (OCT), and visual electrophysiological tests, including...

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PMID: 17962476
DOI: 10.1167/iovs.07-0660

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ERG

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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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