ArticleCold Spring Harbor molecular case studies2020
Expanding the phenotypic spectrum in RDH12-associated retinal disease.
Article in Cold Spring Harbor molecular case studies, 2020. 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, 29 citations in OpenAlex.
- Variants in the ciliopathy gene SCLT1 are associated with non-syndromic and syndromic retinal degeneration of variable severity.NPJ genomic medicine · 2026Article
- Identifying genetic determinants of outer retinal function in mice using a large-scale gene-targeted screen.PLoS genetics · 2025Article
- Bisretinoid lipofuscin, fundus autofluorescence and retinal disease.Progress in retinal and eye research · 2025Review
- Novel Potentially Pathogenic Variants in TBC1D32 Cause Non-syndromic Rod-Cone Degeneration.Advances in experimental medicine and biology · 2025Article
- Retinal Degeneration Associated With Biallelic RDH12 Variants: Longitudinal Evaluation of Retinal Structure and Visual Function in Pediatric Patients.Investigative ophthalmology & visual science · 2024Article
- Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration.NPJ genomic medicine · 2024Article
- Report From the Second Global Scientific Conference on Clinical Trial Design and Outcome Measures for RDH12-Associated Inherited Retinal Degeneration.Translational vision science & technology · 2024Article
- Retinal Imaging Findings in Inherited Retinal Diseases.Journal of clinical medicine · 2024Review
- Adaptive Optics Retinal Imaging in RDH12-Associated Early Onset Severe Retinal Dystrophy.Investigative ophthalmology & visual science · 2024Article
- Article
- Primary versus Secondary Elevations in Fundus Autofluorescence.International journal of molecular sciences · 2023Review
- Clinical and Genetic Analysis of RDH12-Associated Retinopathy in 27 Chinese Families: A Hypomorphic Allele Leads to Cone-Rod Dystrophy.Investigative ophthalmology & visual science · 2022Article
- The Role of Vitamin A in Retinal Diseases.International journal of molecular sciences · 2022Review
- Observational
- Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD.NPJ genomic medicine · 2021Article
- Retinal imaging in inherited retinal diseases.Annals of eye science · 2020Article
Corrections and comments
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Authors and funding
12 authors at 2 institutions in 1 country.
Funding
Abstract
Retinol dehydrogenase 12, RDH12, plays a pivotal role in the visual cycle to ensure the maintenance of normal vision. Alterations in activity of this protein result in photoreceptor death and decreased vision beginning at an early age and progressing to substantial vision loss later in life. Here we describe 11 patients with retinal degeneration that underwent next-generation sequencing (NGS) with a targeted panel of all currently known inherited retinal degeneration (IRD) genes and whole-exome sequencing to identify the genetic causality of their retinal disease. These patients display a range of phenotypic severity prompting clinical diagnoses of macular dystrophy, cone-rod dystrophy, retinitis pigmentosa, and early-onset severe retinal dystrophy all attributed to biallelic recessive mutations in
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