ArticleEye (London, England)2019
Sector Retinitis Pigmentosa caused by mutations of the RHO gene.
Article in Eye (London, England), 2019. 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, 24 citations in OpenAlex.
- OCT and Autofluorescence Phenotypic Features in Autosomal DominantVision (Basel, Switzerland) · 2026Article
- Expanding the clinical and genetic spectrum ofExperimental biology and medicine (Maywood, N.J.) · 2026Article
- Genetic Therapies for Retinitis Pigmentosa: Current Breakthroughs and Future Directions.Journal of clinical medicine · 2025Review
- Genotypes and clinical features of RHO-associated retinitis pigmentosa in a Japanese population.Japanese journal of ophthalmology · 2024Article
- Bilateral angle closure glaucoma with retinitis pigmentosa in young patients: case series.BMC ophthalmology · 2023Article
- Review
- Genotype and phenotype characteristics of RHO-associated retinitis pigmentosa in the Japanese population.Japanese journal of ophthalmology · 2023Article
- Correlation between the Serum Concentration of Vitamin A and Disease Severity in Patients Carrying p.G90D inInternational journal of molecular sciences · 2023Article
- Clinical and genetic features of Koreans with retinitis pigmentosa associated with mutations in rhodopsin.Frontiers in genetics · 2023Article
- EYS-Associated Sector Retinitis Pigmentosa.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2022Article
- The Role of Vitamin A in Retinal Diseases.International journal of molecular sciences · 2022Review
- Clinical Characteristics, Differential Diagnosis and Genetic Analysis of Concentric Retinitis Pigmentosa.Life (Basel, Switzerland) · 2021Article
- Stationary and Progressive Phenotypes Caused by the p.G90D Mutation in Rhodopsin Gene.International journal of molecular sciences · 2021Article
- Sector Retinitis Pigmentosa: Extending the Molecular Genetics Basis and Elucidating the Natural History.American journal of ophthalmology · 2021Article
- Clinical and genetic findings in Italian patients with sector retinitis pigmentosa.Molecular vision · 2021Article
- Epigallocatechin Gallate Slows Retinal Degeneration, Reduces Oxidative Damage, and Modifies Circadian Rhythms in P23H Rats.Antioxidants (Basel, Switzerland) · 2020Article
- Comment on: 'Sector retinitis pigmentosa caused by mutations of the RHO gene'.Eye (London, England) · 2020Article
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundSector retinitis pigmentosa (RP) is an atypical form of RP in which only one or two quadrants of the retina are involved. The objectives of this study were to report the results of a molecular screening of five unrelated Chinese patients with sector RP and describe the clinical features observed in patients with RHO mutations.
methodsFive probands that were clinically diagnosed with sector RP were recruited for genetic analysis. They underwent ophthalmic examinations, including best corrected visual acuity, fundus examination, visual field examinations, and electroretinography. A combination of molecular screening methods, including the targeted next-generation sequencing (TES) and sanger-DNA sequencing of RHO, were used to detect mutations. In silico programs were used to analyze the pathogenicity of all the variants.
resultsThree RHO missense mutations (p.T17M, p.L31Q, and p.G106R) were identified in the five unrelated probands. The novel mutation p.L31Q was detected in three unrelated probands. All patients showed bilateral and symmetrical retinal degeneration in the inferior retina and had relatively good visual acuity. Patients with the p.L31Q mutation showed phenotypic variability and variable penetrance.
conclusionOur results indicate that RHO mutations are also common in Chinese patients with sector RP. The RHO gene should be given priority during mutation screening analysis for Chinese patients with sector RP.
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