ArticleThe British journal of ophthalmology2011
Mutations in RLBP1 associated with fundus albipunctatus in consanguineous Pakistani families.
Article in The British journal of ophthalmology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
What it found
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Who cites it
24 citing papers in PubMed, 42 citations in OpenAlex.
- Intracellular Retinoid-Binding Proteins (CRBP, CRALBP, CRABP) as Emerging Drug Targets in Retinal Disease.International journal of molecular sciences · 2026Review
- Mild RPE65-Associated Inherited Retinal Dystrophies: A Multimodal Clinical and Genetic Evaluation.Translational vision science & technology · 2025Article
- Germline Disruption of Retinal Pigment Epithelium-Expressed Zebrafish rlbp1bFASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2025Article
- Novel variants in the RDH5 Gene in a Chinese Han family with fundus albipunctatus.BMC ophthalmology · 2022Article
- Acquired night blindness due to rod dysfunction after long-term hemodialysis.Japanese journal of ophthalmology · 2022Article
- Disturbed retinoid metabolism upon loss ofeLife · 2021Article
- Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis.PLoS genetics · 2021Article
- Retinitis Punctata Albescens andOphthalmology science · 2021Article
- Function of mammalian M-cones depends on the level of CRALBP in Müller cells.The Journal of general physiology · 2021Article
- Gene Therapy in Inherited Retinal Diseases: An Update on Current State of the Art.Frontiers in medicine · 2021Review
- Qualitative Interviews to Better Understand the Patient Experience and Evaluate Patient-Reported Outcomes (PRO) in RLBP1 Retinitis Pigmentosa (RLBP1 RP).Advances in therapy · 2020Article
- Article
- Late-onset night blindness with peripheral flecks accompanied by progressive trickle-like macular degeneration.Documenta ophthalmologica. Advances in ophthalmology · 2019Article
- Enhancing Understanding of the Visual Cycle by Applying CRISPR/Cas9 Gene Editing in Zebrafish.Frontiers in cell and developmental biology · 2018Review
- Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families.Investigative ophthalmology & visual science · 2017Article
- A challenge to the striking genotypic heterogeneity of retinitis pigmentosa: a better understanding of the pathophysiology using the newest genetic strategies.Eye (London, England) · 2016Review
- Fundus albipunctatus: review of the literature and report of a novel RDH5 gene mutation affecting the invariant tyrosine (p.Tyr175Phe).Journal of applied genetics · 2015Review
- CRALBP supports the mammalian retinal visual cycle and cone vision.The Journal of clinical investigation · 2015Article
- Article
- AIPL1 implicated in the pathogenesis of two cases of autosomal recessive retinal degeneration.Molecular vision · 2014Article
Corrections and comments
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Authors and funding
12 authors at 6 institutions in 4 countries.
Funding
Abstract
objectiveTo identify disease-causing mutations in two consanguineous Pakistani families with fundus albipunctatus.
methodsAffected individuals in both families underwent a thorough clinical examination including funduscopy and electroretinography. Blood samples were collected from all participating members and genomic DNA was extracted. Exclusion analysis was completed with microsatellite short tandem repeat markers that span all reported loci for fundus albipunctatus. Two-point logarithm of odds (LOD) scores were calculated, and coding exons and exon-intron boundaries of RLBP1 were sequenced bi-directionally.
resultsThe ophthalmic examination of affected patients in both families was consistent with fundus albipunctatus. The alleles of markers on chromosome 15q flanking RLBP1 segregated with the disease phenotype in both families and linkage was further confirmed by two-point LOD scores. Bi-directional sequencing of RLBP1 identified a nonsense mutation (R156X) and a missense mutation (G116R) that segregated with the disease phenotype in their respective families.
conclusionsThese results strongly suggest that mutations in RLBP1 are responsible for fundus albipunctatus in the affected individuals of these consanguineous Pakistani families.
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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.