Observational studyThe British journal of ophthalmology2024
Bietti's crystalline dystrophy: genotyping and deep qualitative and quantitative phenotyping in preparation for clinical trials.
Observational study in The British journal of ophthalmology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed, 6 citations in OpenAlex.
- Comprehensive genotypic and phenotypic analysis of Bietti crystalline dystrophy: insights from a large cohort study.Science China. Life sciences · 2025Observational
- Relationship between outer retinal tubulation, retinal volume, and visual field in Bietti crystalline dystrophy.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2025Article
- Safety and Vision Outcomes Following Gene Therapy for Bietti Crystalline Dystrophy: A Nonrandomized Clinical Trial.JAMA ophthalmology · 2025Article
Corrections and comments
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Authors and funding
8 authors at 4 institutions in 2 countries.
Funding
Abstract
purposeTo qualitatively and quantitatively characterise the genotypes and phenotypes of Bietti's crystalline dystrophy (BCD) in a cohort of patients.
designCross-sectional and observational study.
methodsClinically 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 strategy, while percentage area of autofluorescence (AF) atrophy (PAFA) in the macula was determined for quantitation.
resultsIn 74 clinically diagnosed BCD patients, c.802-8_810del17insGC was shown the predominant variant of the
conclusionThe PAFA might be an efficient biomarker for BCD severities correlating with BCVA. The highly heterogeneous chorioretinopathy and BCVA of BCD cases appear to be associated with disease stages, progression types and patients' ages. Foveal involvement should be of a major concern for consideration of potential therapeutic intervention.
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