ArticleThe British journal of ophthalmology2019
Detailed clinical characterisation, unique features and natural history of autosomal recessive
Article in The British journal of ophthalmology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
22 citing papers in PubMed, 28 citations in OpenAlex.
- Report from a Workshop on Accelerating the Development of Treatments for Inherited Retinal Dystrophies Associated with Mutations in theTranslational vision science & technology · 2020Trial
- Functional In Vitro Assessment of rAAV-Delivered Retinol Dehydrogenase 12 (RDH12) Activity.International journal of molecular sciences · 2026Article
- Quantification of Optical Coherence Tomography Features in >3500 Patients with Inherited Retinal Disease Reveals Novel Genotype-Phenotype Associations.medRxiv : the preprint server for health sciences · 2025Article
- Retinal Degeneration Associated With Biallelic RDH12 Variants: Longitudinal Evaluation of Retinal Structure and Visual Function in Pediatric Patients.Investigative ophthalmology & visual science · 2024Article
- Infantile Nystagmus Syndrome-Associated Inherited Retinal Diseases: Perspectives from Gene Therapy Clinical Trials.Life (Basel, Switzerland) · 2024Review
- 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
- Article
- Adaptive Optics Retinal Imaging in RDH12-Associated Early Onset Severe Retinal Dystrophy.Investigative ophthalmology & visual science · 2024Article
- Article
- Novel disease-causing variant inThe British journal of ophthalmology · 2022Article
- 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
- Leber congenital amaurosis/early-onset severe retinal dystrophy: current management and clinical trials.The British journal of ophthalmology · 2022Review
- The Role of Vitamin A in Retinal Diseases.International journal of molecular sciences · 2022Review
- Observational
- Involvement of Oxidative and Endoplasmic Reticulum Stress inInternational journal of molecular sciences · 2021Article
- Generation of two human iPSC lines from patients with autosomal dominant retinitis pigmentosa (UCLi014-A) and autosomal recessive Leber congenital amaurosis (UCLi015-A), associated with RDH12 variants.Stem cell research · 2021Article
- Gene Therapy forDrug design, development and therapy · 2021Article
- Retinal imaging in inherited retinal diseases.Annals of eye science · 2020Article
- Expanding the phenotypic spectrum in RDH12-associated retinal disease.Cold Spring Harbor molecular case studies · 2020Article
- Novel Heterozygous Deletion in Retinol Dehydrogenase 12 (Frontiers in genetics · 2020Article
Corrections and comments
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Authors and funding
15 authors at 3 institutions in 2 countries.
Funding
Abstract
backgroundDefects in retinol dehydrogenase 12 (
methodsA retrospective chart review was performed in individuals with retinal degeneration and two likely disease-causing variants in
results57 subjects were enrolled from nine countries. 33 subjects had clinical records available from childhood. The data revealed an EOSRD, with average age of onset of 4.1 years. Macular atrophy was a universal clinical finding in all subjects, as young as 2 years of age. Scotopic and photopic electroretinography (ERG) responses were markedly reduced in all subjects, and a non-recordable ERG was documented as young as 1 year of age. Assessment of visual acuity, visual field and optical coherence tomography revealed severe loss of function and structure in the majority of subjects after the age of 10 years. Widefield imaging in 23 subjects revealed a unique, variegated watercolour-like pattern of atrophy in 13 subjects and sparing of the peripapillary area in 18 subjects.
conclusionsThis study includes the largest collection of phenotypic data from children with
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Registered trials
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.