ArticleScientific reports2017
Genetic and phenotypic characteristics of four Chinese families with fundus albipunctatus.
Article in Scientific reports, 2017. 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, 38 citations in OpenAlex.
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- Clinical and Genetic Characteristics of Patients with Peripheral Retinal Flecks in Koreans.Korean journal of ophthalmology : KJO · 2024Article
- Ocular genetics in the Japanese population.Japanese journal of ophthalmology · 2024Review
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- Retinal pigment epithelium 65 kDa protein (RPE65): An update.Progress in retinal and eye research · 2022Review
- A large animal model of RDH5-associated retinopathy recapitulates important features of the human phenotype.Human molecular genetics · 2022Article
- Next-Generation Sequencing Screening of 43 Families with Non-Syndromic Early-Onset High Myopia: A Clinical and Genetic Study.International journal of molecular sciences · 2022Article
- Novel variants in the RDH5 Gene in a Chinese Han family with fundus albipunctatus.BMC ophthalmology · 2022Article
- RPE65-Associated Retinopathies in the Italian Population: A Longitudinal Natural History Study.Investigative ophthalmology & visual science · 2022Article
- Clinical Features and Natural History in a Cohort of Chinese Patients with RPE65-Associated Inherited Retinal Dystrophy.Journal of clinical medicine · 2021Article
- Frequency and phenotypic characteristics of RPE65 mutations in the Chinese population.Orphanet journal of rare diseases · 2021Article
- Retinal imaging in inherited retinal diseases.Annals of eye science · 2020Article
- Long-Term Follow-Up of Retinal Degenerations Associated WithTranslational vision science & technology · 2019Article
- Seven novel variants expand the spectrum ofMolecular vision · 2019Article
- Early onset flecked retinal dystrophy associated with new compound heterozygousMolecular vision · 2018Article
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Fundus albipunctatus (FA) is a rare autosomal recessive form of stationary night blindness characterized by the presence of white or white-yellow dots in the perimacular area and the periphery of the retina, with or without macular involvement. In this study, we examined four Chinese families with FA. Patients were given complete ophthalmic examinations, and blood samples were collected for DNA extraction. Three genes, RDH5, RLBP1 and RPE65, were screened by direct sequencing. Mutations in RDH5 were identified in three families and mutations in RPE65 were identified in one family. This is the second reported case of FA caused by mutations in RPE65.
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