ArticleMolecular vision2013
Clinical characteristics of early retinal disease due to CDHR1 mutation.
Article in Molecular vision, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
15 citing papers in PubMed, 25 citations in OpenAlex.
- Posterior segment findings in a patient with aAmerican journal of ophthalmology case reports · 2024Article
- Rescue of cone and rod photoreceptor function in a CDHR1-model of age-related retinal degeneration.Molecular therapy : the journal of the American Society of Gene Therapy · 2024Article
- Longitudinal Structure-Function Evaluation in a Patient withDiagnostics (Basel, Switzerland) · 2023Article
- Choroideremia Carriers: Dark-Adapted Perimetry and Retinal Structures.Investigative ophthalmology & visual science · 2022Article
- Clinical Phenotypes ofGenes · 2022Article
- Retinoids in the visual cycle: role of the retinal G protein-coupled receptor.Journal of lipid research · 2021Review
- Novel mutations inInternational journal of ophthalmology · 2021Article
- Proteasome-Mediated Regulation of Cdhr1a by Siah1 Modulates Photoreceptor Development and Survival in Zebrafish.Frontiers in cell and developmental biology · 2020Article
- Characteristic Ocular Features in Cases of Autosomal Recessive PROM1 Cone-Rod Dystrophy.Investigative ophthalmology & visual science · 2019Article
- A Japanese family with cone-rod dystrophy of delayed onset caused by a compound heterozygous combination of novelHuman genome variation · 2019Article
- A novel, homozygous nonsense variant of the CDHR1 gene in a Chinese family causes autosomal recessive retinal dystrophy by NGS-based genetic diagnosis.Journal of cellular and molecular medicine · 2018Article
- Article
- Whole exome sequencing using Ion Proton system enables reliable genetic diagnosis of inherited retinal dystrophies.Scientific reports · 2017Article
- Identification of two novel mutations in CDHR1 in consanguineous Spanish families with autosomal recessive retinal dystrophy.Scientific reports · 2015Article
- Whole exome sequencing reveals GUCY2D as a major gene associated with cone and cone-rod dystrophy in Israel.Investigative ophthalmology & visual science · 2014Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo describe the early clinical and electrophysiological features of cone-rod dystrophy due to a mutation of cadherin-related family member 1 (CDHR1).
methodsThree affected siblings from a consanguineous family were ascertained. The clinical data included retinal examination, Goldmann visual fields, fundus autofluorescence imaging, optical coherence tomography (OCT), and pattern and full-field electroretinograms. Exome sequencing was performed in two siblings.
resultsThe three siblings presented at age 24, 18, and 16 years, respectively. Their main symptoms were blurred central vision, dyschromatopsia, and photoaversion. All were myopic with best-corrected visual acuities of 20/60, 20/60, and 20/40, respectively. Fundoscopy revealed a range of macular appearances from mild retinal pigment epithelial changes to symmetric, subfoveal pigmented lesions. Fundus autofluorescence imaging and OCT revealed evidence of mild structural abnormalities in the two older siblings. Electroretinography findings in all three patients indicated severe generalized cone-rod dysfunction. Mutational screening in the three siblings showed them to be homozygous for a previously reported frame-shifting mutation in exon 13 of CDHR1, c.1463delG, p.G488fs.
conclusionsThe initial clinical signs in this specific retinopathy may be relatively subtle despite a significant functional deficit, with unusual, bilateral, subfoveal pigmented lesions in one 16-year-old patient. Lack of CDHR1 in the human retina causes symptoms related to cone photoreceptor dysfunction in the first instance. A near-normal retinal structure, at least in the first two decades, suggests that CDHR1-related retinopathy may be a good candidate for gene replacement or other novel stabilizing treatments.
Indexed as
Identifiers
24265541PMC3834600W2144035830What OpenQuestion holds
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.