ArticleThe British journal of ophthalmology2018
Longitudinal characterisation of function and structure of Bietti crystalline dystrophy: report on a novel homozygous mutation in
Article in The British journal of ophthalmology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
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Who cites it
16 citing papers in PubMed, 1 synthesis or guideline pooled it, 26 citations in OpenAlex.
- Natural history of progressive vision loss in Bietti crystalline dystrophy: a model-based meta-analysis.BMJ open ophthalmology · 2025Pooled it
- Bietti crystalline dystrophy in Türkiye: A genetic crossroads between Asia and Europe.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2026Article
- Fundus Autofluorescence as a Sensitive Biomarker of Disease Progression in Bietti Crystalline Dystrophy.Ophthalmology science · 2026Article
- Comprehensive genotypic and phenotypic analysis of Bietti crystalline dystrophy: insights from a large cohort study.Science China. Life sciences · 2025Observational
- Enhanced genotype-phenotype analysis using multimodal adaptive optics and 3D protein structure in Bietti Crystalline Dystrophy.American journal of ophthalmology case reports · 2025Article
- Evaluating precision medicine approaches for gene therapy in patient-specific cellular models of Bietti crystalline dystrophy.JCI insight · 2024Article
- Longitudinal Natural History Study of Visual Function in Bietti Crystalline Dystrophy: Implications for Early Intervention.Investigative ophthalmology & visual science · 2024Article
- Longitudinal structure-function analysis of molecularly-confirmed CYP4V2 Bietti Crystalline Dystrophy.Eye (London, England) · 2024Article
- Application of Electrophysiology in Non-Macular Inherited Retinal Dystrophies.Journal of clinical medicine · 2023Review
- Diagnostic and Management Strategies of Bietti Crystalline Dystrophy: Current Perspectives.Clinical ophthalmology (Auckland, N.Z.) · 2023Review
- A novel mutation ofInternational journal of ophthalmology · 2022Article
- [Generation and characterization ofBeijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences · 2021Article
- Observation of the characteristics of the natural course of Bietti crystalline dystrophy by fundus fluorescein angiography.BMC ophthalmology · 2021Article
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- Current perspectives in Bietti crystalline dystrophy.Clinical ophthalmology (Auckland, N.Z.) · 2019Article
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
Abstract
backgroundBietti crystalline dystrophy (BCD) is a rare inherited disorder characterised by fine crystalline deposits in the corneal limbus and retinal posterior pole. In 2004, mutations in the
methodsAt regular intervals, the patient underwent repeat ophthalmic evaluations. DNA was extracted from buccal swabs, amplified by standard PCR and analysed for homology to the CYP4V2 sequence. Homology modelling was conducted using Iterative Threading ASSEmbly Refinement and molecular dynamics simulations using GROningen MAchine for Chemical Simulations.
resultsThe proband, a 47-year-old woman of German ancestry was diagnosed with crystalline retinopathy at age 25. Over the next 20 years, visual acuity and function gradually declined with progression of retinal pigment epithelium and choroidal atrophy. When first tested at 39 years of age, the multifocal electroretinogram (ERG) was markedly abnormal, more so for the right eye, whereas the full-field ERG was more symmetrical and lagged other measures of visual function. Gene sequencing showed a single C>T point mutation in exon 9 encoding a R400C amino acid change. Computational modelling suggests the mutation impairs function due to loss of a hydrogen bonding interaction with the propionate side chains of the haeme prosthetic group.
conclusionThis is the first report of a homozygous R400C mutation in CYP4V2 with protein modelling showing high likelihood of enzyme dysfunction. The comprehensive long-term clinical follow-up provides insight into disease progression and highlights possible anti-inflammatory modulation of disease severity.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.