ArticleAmerican journal of ophthalmology2023
CRB1-Associated Retinal Dystrophies: Genetics, Clinical Characteristics, and Natural History.
Article in American journal of ophthalmology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers, 1 of them a synthesis that pooled it.
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
37 citing papers in PubMed, 1 synthesis or guideline pooled it, 47 citations in OpenAlex.
- Genotype-phenotype associations in CRB1 bi-allelic patients: a novel mutation, a systematic review and meta-analysis.BMC ophthalmology · 2024Pooled it
- Article
- Early onset primary angle closure and foveal retinoschisis associated with a pseudo-homozygous CRB1 pathogenic variant.Documenta ophthalmologica. Advances in ophthalmology · 2026Article
- Longitudinal Behavior of the Hyper-Reflective Ganglion Cell Layer Band and Its Association With Ellipsoid Zone Constriction Rate in RP.Investigative ophthalmology & visual science · 2026Article
- Pathogenicity Analysis of Two Novel CRB1 Mutations in Three Chinese Inherited Retinal Dystrophy Families and a Literature Review.Translational vision science & technology · 2026Review
- Metabolomic signatures suggest altered bile acid and energy metabolism in CRB1- retinopathies.Metabolomics : Official journal of the Metabolomic Society · 2026Article
- Outer retinal tubulation associated with photoreceptor degeneration.Progress in retinal and eye research · 2026Review
- Novel Genotype-Phenotype Correlations inOphthalmology science · 2026Article
- Using Steady-State Visual Evoked Potentials to Characterize Wide-Ranging Retinopathy Linked toComputational and structural biotechnology journal · 2026Article
- Natural course of refractive errors in early onset inherited retinal diseases.Eye (London, England) · 2025Article
- RetiGene, a comprehensive gene atlas for inherited retinal diseases.American journal of human genetics · 2025Review
- Development of Retinal Astroglia.Annual review of vision science · 2025Review
- Quantification of Optical Coherence Tomography Features in >3500 Patients with Inherited Retinal Disease Reveals Novel Genotype-Phenotype Associations.medRxiv : the preprint server for health sciences · 2025Article
- A Phenotypic Study of CRB1 Retinopathy Secondary to the Variant p.(Pro836Thr) Prevalent in Those of Black African Ancestry.Investigative ophthalmology & visual science · 2025Article
- Article
- Elevated Visual Crowding in CRB1-Associated Retinopathies: Understanding Functional Visual Deficits Using Child-Friendly Computerized Testing.Investigative ophthalmology & visual science · 2025Article
- LMTK2 and CRB1 are two novel risk genes for Alzheimer's disease in Han Chinese.The journal of prevention of Alzheimer's disease · 2025Article
- Expanding the Clinical Spectrum ofInternational journal of molecular sciences · 2025Article
- Assessment ofBiomedicines · 2025Article
- Article
Corrections and comments
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Authors and funding
12 authors at 7 institutions in 6 countries.
Funding
Abstract
purposeTo analyze the clinical characteristics, natural history, and genetics of CRB1-associated retinal dystrophies.
designMulticenter international retrospective cohort study.
methodsReview of clinical notes, ophthalmic images, and genetic testing results of 104 patients (91 probands) with disease-causing CRB1 variants. Macular optical coherence tomography (OCT) parameters, visual function, fundus characteristics, and associations between variables were the main outcome measures.
resultsThe mean age of the cohort at the first visit was 19.8 ± 16.1 (median 15) years, with a mean follow-up of 9.6 ± 10 years. Based on history, imaging, and clinical examination, 26 individuals were diagnosed with retinitis pigmentosa (RP; 25%), 54 with early-onset severe retinal dystrophy / Leber congenital amaurosis (EOSRD/LCA; 52%), and 24 with macular dystrophy (MD; 23%). Severe visual impairment was most frequent after 40 years of age for patients with RP and after 20 years of age for EOSRD/LCA. Longitudinal analysis revealed a significant difference between baseline and follow-up best-corrected visual acuity in the 3 subcohorts. Macular thickness decreased in most patients with EOSRD/LCA and MD, whereas the majority of patients with RP had increased perifoveal thickness.
conclusionsA subset of individuals with CRB1 variants present with mild, adult-onset RP. EOSRD/LCA phenotype was significantly associated with null variants, and 167_169 deletion was exclusively present in the MD cohort. The poor OCT lamination may have a degenerative component, as well as being congenital. Disease symmetry and reasonable window for intervention highlight CRB1 retinal dystrophies as a promising target for trials of novel therapeutics.
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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.