ArticleInvestigative ophthalmology & visual science2020
RDH5-Related Fundus Albipunctatus in a Large Japanese Cohort.
Article in Investigative ophthalmology & visual science, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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17 citing papers in PubMed, 31 citations in OpenAlex.
- Genetic characterization of inherited retinal dystrophy in a Northwestern Chinese cohort: A single-center study over a 5-year period in Shaanxi, China.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2026Article
- Bilateral non-hereditary foveomacular and peripheral retinoschisis in a young female with electrophysiological abnormalities.Documenta ophthalmologica. Advances in ophthalmology · 2026Article
- Functional and Structural Characterization of a Large Animal Model of RDH5-Associated Retinopathy.Translational vision science & technology · 2026Article
- Longitudinal evaluation of peripheral photoreceptor atrophy in fundus albipunctatus.Japanese journal of ophthalmology · 2026Observational
- Relatively preserved retinal function in RPE65-associated retinopathy: a case report.Documenta ophthalmologica. Advances in ophthalmology · 2025Article
- Article
- Clinical and Genetic Characteristics of Patients with Peripheral Retinal Flecks in Koreans.Korean journal of ophthalmology : KJO · 2024Article
- Whole-Exome Sequencing in Turkish Patients with Inherited Retinal Dystrophies Reveals Novel Variants in Ten Genes.Molecular syndromology · 2024Article
- Cellular and Molecular Mechanisms of Pathogenesis Underlying Inherited Retinal Dystrophies.Biomolecules · 2023Review
- Selection signature analysis revealsArchives animal breeding · 2023Article
- A large animal model of RDH5-associated retinopathy recapitulates important features of the human phenotype.Human molecular genetics · 2022Article
- The Role of Vitamin A in Retinal Diseases.International journal of molecular sciences · 2022Review
- A Novel Pathogenic Variant in the RDH5 Gene in a Patient with Fundus Albipunctatus and Severe Macular Atrophy.Case reports in genetics · 2022Article
- Acquired night blindness due to rod dysfunction after long-term hemodialysis.Japanese journal of ophthalmology · 2022Article
- Vitamin A deficiency after prolonged intake of an unbalanced diet in a Japanese hemodialysis patient.Documenta ophthalmologica. Advances in ophthalmology · 2021Article
- Genotype-Phenotype Correlations inJournal of clinical medicine · 2021Article
- Novel biallelic TRPM1 variants in an elderly patient with complete congenital stationary night blindness.Documenta ophthalmologica. Advances in ophthalmology · 2021Article
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Authors and funding
20 authors at 7 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
Purpose: To investigate clinical characteristics of RDH5-related fundus albipunctatus (FAP) in a Japanese cohort. Methods: Twenty-five patients from 22 pedigrees with RDH5-related FAP were studied. Ophthalmic medical records were reviewed. For genetic analysis, either Sanger sequencing of the RDH5 gene or whole-exome sequencing was performed. Results: Genetic analysis identified eight different RDH5 variants, including seven known RDH5 variants (p.G35S, p.G107R, p.R167H, p.A240GfsX19, p.R278X, p.R280H, and p.L310delinsEV) and a novel variant: c.259C>T (p.Q87X). The most frequently observed variant was p.L310delinsEV (65.2%, 30/46 alleles). Of 50 eyes examined, 44 eyes (88.0%) showed logMAR best-corrected visual acuity (BCVA) of 0.10 or better. In optical coherence tomography, macular involvement was observed in 12 patients (24 eyes). Ten patients (83.3%) who had good BCVA (0.10 or better) exhibited diffuse disruption of the outer retina with foveal sparing, and two patients (16.7%) exhibited diffuse disruption throughout the macula and decreased BCVA. Among the 24 eyes, ring-or crescent-shaped hyperautofluorescence or irregular autofluorescence around the fovea was observed in 15 eyes (83.3%) of 18 eyes examined by fundus autofluorescence imaging. Full-field electroretinography showed extinguished or severely decreased rod responses in all 23 examined patients, whereas decreased cone responses were seen in 17 patients (73.9%). Conclusions: Multimodal imaging and electroretinography of RDH5-related FAP revealed high frequencies of macular involvement in older patients and decreased cone responses. Our findings suggest that progressive macular/cone dysfunction, as well as delayed rod function, may be key phenotypic features of RDH5-related FAP.
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