ReviewHuman mutation2012
CRB1 mutations in inherited retinal dystrophies.
Review in Human mutation, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 112 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
112 citing papers in PubMed, 1 synthesis or guideline pooled it, 192 citations in OpenAlex.
- Genotype-phenotype associations in CRB1 bi-allelic patients: a novel mutation, a systematic review and meta-analysis.BMC ophthalmology · 2024Pooled it
- CCR1 signaling as a common injury pathway in retinal degeneration.Journal of neuroinflammation · 2026Article
- Early onset primary angle closure and foveal retinoschisis associated with a pseudo-homozygous CRB1 pathogenic variant.Documenta ophthalmologica. Advances in ophthalmology · 2026Article
- Genotype-phenotype correlations in retinitis pigmentosa: structural and vascular insights using OCT and OCTA.International journal of retina and vitreous · 2026Article
- Endocytome profiling uncovers cell-surface protein dynamics underlying neuronal connectivity.Neuron · 2026Article
- Pathogenicity Analysis of Two Novel CRB1 Mutations in Three Chinese Inherited Retinal Dystrophy Families and a Literature Review.Translational vision science & technology · 2026Review
- Review
- Unveiling ZNF124 as a novel determinant in neurodegeneration: orchestration of photoreceptor homeostasis through MSX2 transcriptional regulation.Cell death & disease · 2026Article
- Novel Genotype-Phenotype Correlations inOphthalmology science · 2026Article
- Bioinformatics analysis of de novo missense variants inAmerican journal of translational research · 2026Article
- Detailed Comparison Between Two Main Phenotypes of CRB1-Related Retinal Dystrophy, Pan-retinopathy and Maculopathy.Investigative ophthalmology & visual science · 2025Article
- The Specific Pathogenicity Pattern of the DifferentInternational journal of molecular sciences · 2025Article
- RetiGene, a comprehensive gene atlas for inherited retinal diseases.American journal of human genetics · 2025Review
- Lego Self-Assembly Model of Zebrafish RGB Cone Pentamer Formation: Unique Role of Crumbs2b in Cone Coalescence via Planar Orientational Cell Adhesions.Investigative ophthalmology & visual science · 2025Article
- Asymmetrical Macular Thinning on Optical Coherence Tomography (OCT) in Pigmented Paravenous Retinochoroidal Atrophy.Cureus · 2025Article
- Endocytome profiling uncovers cell-surface protein dynamics underlying neuronal connectivity.bioRxiv : the preprint server for biology · 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
- Article
- Elevated Plasma Complement Factors in CRB1-Associated Inherited Retinal Dystrophies.Investigative ophthalmology & visual science · 2025Article
52 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
14 authors at 3 institutions in 3 countries.
Funding
Abstract
Mutations in the CRB1 gene are associated with variable phenotypes of severe retinal dystrophies, ranging from leber congenital amaurosis (LCA) to rod-cone dystrophy, also called retinitis pigmentosa (RP). Moreover, retinal dystrophies resulting from CRB1 mutations may be accompanied by specific fundus features: preservation of the para-arteriolar retinal pigment epithelium (PPRPE) and retinal telangiectasia with exudation (also referred to as Coats-like vasculopathy). In this publication, we report seven novel mutations and classify over 150 reported CRB1 sequence variants that were found in more that 240 patients. The data from previous reports were used to analyze a potential correlation between CRB1 variants and the clinical features of respective patients. This meta-analysis suggests that the differential phenotype of patients with CRB1 mutations is due to additional modifying factors rather than particular mutant allele combination.
Indexed as
Identifiers
What OpenQuestion holds
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.