ReviewJournal of applied genetics2015
Fundus albipunctatus: review of the literature and report of a novel RDH5 gene mutation affecting the invariant tyrosine (p.Tyr175Phe).
Review in Journal of applied genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis that pooled it.
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Who cites it
17 citing papers in PubMed, 1 synthesis or guideline pooled it, 37 citations in OpenAlex.
- Definition of the transcriptional units of inherited retinal disease genes by meta-analysis of human retinal transcriptome data.BMC genomics · 2023Pooled it
- Potential Mutations in Chinese Pathologic Myopic Patients and Contributions to Phenotype.Current molecular medicine · 2018Trial
- 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
- Retinoid dynamics in vision: from visual cycle biology to retina disease treatments.Pharmacology & therapeutics · 2025Review
- Novel variants in the RDH5 Gene in a Chinese Han family with fundus albipunctatus.BMC ophthalmology · 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
- The electroretinogram in the genomics era: outer retinal disorders.Eye (London, England) · 2021Review
- Gene therapy in retinal diseases: A review.Indian journal of ophthalmology · 2021Review
- RDH5-Related Fundus Albipunctatus in a Large Japanese Cohort.Investigative ophthalmology & visual science · 2020Article
- Retinal dehydrogenase 5 (RHD5) attenuates metastasis via regulating HIPPO/YAP signaling pathway in Hepatocellular Carcinoma.International journal of medical sciences · 2020Article
- Article
- Structural biology of 11-The Biochemical journal · 2018Review
- Rhythmic Regulation of Photoreceptor and RPE Genes Important for Vision and Genetically Associated With Severe Retinal Diseases.Investigative ophthalmology & visual science · 2018Article
- Measurement of dark adaptometry during ISCEV standard flash electroretinography.Documenta ophthalmologica. Advances in ophthalmology · 2017Article
- Genetic and phenotypic characteristics of four Chinese families with fundus albipunctatus.Scientific reports · 2017Article
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Fundus albipunctatus (FA) is a rare, congenital form of night blindness with rod system impairment, characterised by the presence of numerous small, white-yellow retinal lesions. FA belongs to a heterogenous group of so-called flecked retina syndromes. This disorder shows autosomal recessive inheritance and is caused mostly by mutations in the RDH5 gene. This gene encodes the enzyme that is a part of the visual cycle, the 11-cis retinol dehydrogenase. This study is a brief review of the literature on FA and a report of the first molecular evidence for RDH5 gene mutation in a Polish patient with this rare disorder. We present a novel pathogenic RDH5 gene mutation in a 16-year-old female patient with symptoms of night blindness. The patient underwent ophthalmological examinations, including colour vision testing, fundus photography, automated visual field testing, full-field electroretinography (ERG) and spectral optical coherent tomography (SOCT). The patient showed typical FA ERG records, the visual field was constricted and fundus examination revealed numerous characteristic, small, white-yellowish retinal lesions. DNA sequencing of the RDH5 gene coding sequence (exons 2-5) enabled the detection of the homozygous missense substitution c.524A > T (p.Tyr175Phe) in exon 3. This is the first report of RDH5 gene mutation that affects the invariant tyrosine, one of the most conserved amino acid residues in short-chain alcohol dehydrogenases/reductases (SDRs), crucial for these enzymes' activity. The location of this substitution, together with its predicted influence on the protein function, indicate that the p.Tyr175Phe mutation is the cause of FA in our patient.
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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.