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Article

Bietti's crystalline dystrophy: genotyping and deep qualitative and quantitative phenotyping in preparation for clinical trials.

The British journal of ophthalmology - 23 Jul 2024

Li Qian, Wang Cong, Zhang Shengjuan, Fu Zhongjie, Jiao Xiaodong, Jin Zi-Bing, Hejtmancik James Fielding, Peng Xiaoyan

Abstract excerpt

PURPOSE: To qualitatively and quantitatively characterise the genotypes and phenotypes of Bietti's crystalline dystrophy (BCD) in a cohort of patients. DESIGN: Cross-sectional and observational study. METHODS: Clinically confirmed BCD patients were recruited for genotyping and phenotyping. Multiple retinal imaging modalities were employed. Atrophy in the fovea was adopted as major consideration for staging...

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Share to Corneal Dystrophies, Hereditary
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 37963713
DOI: 10.1136/bjo-2022-322673
PMCID: PMC12035581

Genes

CYP4V2

Provenance

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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