ArticleOphthalmic genetics2016
Detailed functional and structural phenotype of Bietti crystalline dystrophy associated with mutations in CYP4V2 complicated by choroidal neovascularization.
Article in Ophthalmic genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
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Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it, 39 citations in OpenAlex.
- Natural history of progressive vision loss in Bietti crystalline dystrophy: a model-based meta-analysis.BMJ open ophthalmology · 2025Pooled it
- FREQUENT SUBCLINICAL MACULAR CHANGES IN COMBINED BRAF/MEK INHIBITION WITH HIGH-DOSE HYDROXYCHLOROQUINE AS TREATMENT FOR ADVANCED METASTATIC BRAF MUTANT MELANOMA: Preliminary Results From a Phase I/II Clinical Treatment Trial.Retina (Philadelphia, Pa.) · 2019Trial
- Cross-Sectional Analysis of Outer Retinal Tubulation in Inherited Retinal Diseases: A Multicenter Study.American journal of ophthalmology · 2025Article
- Case Report: Clinical and genetic analysis of a Bietti crystalline dystrophy family with multisite crystalline deposits and a phenotype of macular hole combined with retinoschisis.Frontiers in medicine · 2025Article
- Investigating Microperimetric Features in Bietti Crystalline Dystrophy Patients: A Cross-Sectional Longitudinal Study in a Large Cohort.Investigative ophthalmology & visual science · 2024Article
- In vivo genome editing via CRISPR/Cas9-mediated homology-independent targeted integration for Bietti crystalline corneoretinal dystrophy treatment.Nature communications · 2024Article
- En face OCT analysis of Bietti's crystalline dystrophy.American journal of ophthalmology case reports · 2024Article
- Clinical and genetic characterization of a large cohort of Chinese patients with Bietti crystalline retinopathy.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2024Article
- Clinical outcomes of treated macular neovascularisation secondary to inherited retinal diseases: a literature review.BMJ open ophthalmology · 2023Review
- A patient advocating for transparent science in rare disease research.Orphanet journal of rare diseases · 2023Article
- Diagnostic and Management Strategies of Bietti Crystalline Dystrophy: Current Perspectives.Clinical ophthalmology (Auckland, N.Z.) · 2023Review
- Structural and functional phenotypic features and molecular analysis of Indian patients with Bietti crystalline dystrophy.Indian journal of ophthalmology · 2022Article
- A novel mutation ofInternational journal of ophthalmology · 2022Article
- Multimodal imaging features and genetic findings in Bietti crystalline dystrophy.BMC ophthalmology · 2020Article
- Autofluorescence of choroidal vessels in Bietti's crystalline dystrophy.BMJ open ophthalmology · 2020Article
- Bietti crystalline dystrophy and choroidal neovascularization in childhood.International journal of ophthalmology · 2019Article
- Current perspectives in Bietti crystalline dystrophy.Clinical ophthalmology (Auckland, N.Z.) · 2019Article
- Natural History of the Central Structural Abnormalities in Choroideremia: A Prospective Cross-Sectional Study.Ophthalmology · 2017Article
- Bietti crystalline dystrophy complicated by choroidal neovascularization treated with a single dose of aflibercept.Oman journal of ophthalmologyArticle
- Fundus Autofluorescence and Clinical Applications.Journal of ophthalmic & vision researchReview
Corrections and comments
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Authors and funding
8 authors at 4 institutions in 2 countries.
Funding
Abstract
purposeTo describe in detail the phenotype of a patient with Bietti crystalline dystrophy (BCD) complicated by choroidal neovascularization (CNV) and the response to intravitreal Bevacizumab (Avastin
methodsA 34-year-old woman with BCD and mutations in CYP4V2 (c.802-8_806del13/p.H331P:c992A>C) underwent a complete ophthalmic examination, full-field flash electroretinography (ERG), kinetic and two-color dark-adapted perimetry, and dark-adaptometry. Imaging was performed with spectral domain optical coherence tomography (SD-OCT), near infrared (NIR) and short wavelength (SW) fundus autofluorescence (FAF), and fluorescein angiography (FA).
resultsBest-corrected visual acuity (BCVA) was 20/20 and 20/60 for the right and left eye, respectively. There were corneal paralimbal crystal-like deposits. Kinetic fields were normal in the peripheral extent. Retinal crystals were most obvious on NIR-reflectance and corresponded with hyperreflectivities within the RPE on SD-OCT. There was parafoveal/perifoveal hypofluorescence on SW-FAF and NIR-FAF. Rod > cone sensitivity loss surrounded fixation and extended to ~10° of eccentricity corresponding to regions of photoreceptor outer segment-retinal pigmented epithelium (RPE) interdigitation abnormalities. The outer nuclear layer was normal in thickness. Recovery of sensitivity following a ~76% rhodopsin bleach was normal. ERGs were normal. A subretinal hemorrhage in the left eye co-localized with elevation of the RPE on SD-OCT and leakage on FA, suggestive of CNV. Three monthly intravitreal injections of Bevacizumab led to restoration of BCVA to baseline (20/25).
conclusioncrystals in BCD were predominantly located within the RPE. Photoreceptor outer segment and apical RPE abnormalities underlie the relatively extensive retinal dysfunction observed in relatively early-stage BCD. Intravitreal Bevacizumab was effective in treating CNV in this setting.
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