ArticleInvestigative ophthalmology & visual science2003
Late-onset autosomal dominant macular dystrophy with choroidal neovascularization and nonexudative maculopathy associated with mutation in the RDS gene.
Article in Investigative ophthalmology & visual science, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 36 citations in OpenAlex.
- A novel PRPF31 mutation in a large Chinese family with autosomal dominant retinitis pigmentosa and macular degeneration.PloS one · 2013Trial
- PARP inhibition preserves cone photoreceptors in rd2 retina.Acta neuropathologica communications · 2025Article
- Clinical and Imaging Characteristics of PRPH2 Retinopathies in a Longitudinal Cohort and Diagnostic Implications.Investigative ophthalmology & visual science · 2024Observational
- Retinal Dystrophies Associated With Peripherin-2: Genetic Spectrum and Novel Clinical Observations in 241 Patients.Investigative ophthalmology & visual science · 2024Article
- Comparative study of PRPH2 D2 loop mutants reveals divergent disease mechanism in rods and cones.Cellular and molecular life sciences : CMLS · 2023Article
- Prph2 disease mutations lead to structural and functional defects in the RPE.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2022Article
- Retbindin: A riboflavin Binding Protein, Is Critical for Photoreceptor Homeostasis and Survival in Models of Retinal Degeneration.International journal of molecular sciences · 2020Article
- Genotype-phenotype associations in a large PRPH2-related retinopathy cohort.Human mutation · 2020Article
- Review
- Photoreceptor Disc Enclosure Occurs in the Absence of Normal Peripherin-2/rds Oligomerization.Frontiers in cellular neuroscience · 2020Article
- A case-control collapsing analysis identifies retinal dystrophy genes associated with ophthalmic disease in patients with no pathogenic ABCA4 variants.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- The Y141C knockin mutation in RDS leads to complex phenotypes in the mouse.Human molecular genetics · 2014Article
- Intrafamilial phenotypic variability in families with RDS mutations: exclusion of ROM1 as a genetic modifier for those with retinitis pigmentosa.The British journal of ophthalmology · 2007Article
- Genetic and phenotypic heterogeneity in pattern dystrophy.The British journal of ophthalmology · 2005Article
- Genetic factors of age-related macular degeneration.Progress in retinal and eye research · 2004Review
- Choroidal neovascularization associated with butterfly-shaped pattern dystrophy - a case report.Romanian journal of ophthalmologyArticle
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Authors and funding
11 authors at 4 institutions in 1 country.
Funding
Abstract
purposeTo examine the molecular genetic basis and phenotypic characteristics of an unusual late-onset autosomal dominant macular dystrophy with features of age-related macular degeneration (AMD) in a large family (SUNY901), by using linkage and mutation analyses.
methodsBlood samples were collected from 17 affected members, 17 clinically unaffected members, and 5 unrelated spouses. Clinical analyses included a review of medical history and standard ophthalmic examination with fundus photography, fluorescein angiography, and electroretinography. Linkage and haplotype analyses were performed with microsatellite markers. Mutation analysis was performed by amplification of exons followed by sequencing.
resultsA wide spectrum of clinical phenotypes including exudative and nonexudative maculopathy was observed, with onset in the late fifth decade. Linkage analysis excluded most of the previously known maculopathy loci. Markers D6S1604 (Z(max) of 3.18 at theta = 0), and D6S282 (Z(max) of 3.18 at theta = 0) gave significant positive LOD scores and haplotype analysis localized the disease gene to a 9-centimorgan (cM) interval between markers D6S1616 and D6S459. Mutation analysis excluded the GUCA1A and GUCA1B genes and revealed a missense mutation in the RDS/peripherin gene leading to a Tyr141Cys substitution. A phenotype and haplotype comparison between this and a separate family with the Tyr141Cys mutation suggested the presence of a common ancestral haplotype.
conclusionsThe RDS mutation in codon 141 is associated with an unusual AMD-like late-onset maculopathy. An apparent selective bias was noted favoring the transmission of the mutant allele. These observations broaden the spectrum of phenotypes associated with RDS gene mutations.
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