ArticleMolecular vision2018
Early onset flecked retinal dystrophy associated with new compound heterozygous
Article in Molecular vision, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 22 citations in OpenAlex.
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- Ocular genetics in the Japanese population.Japanese journal of ophthalmology · 2024Review
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- Gene Therapy with Voretigene Neparvovec Improves Vision and Partially Restores Electrophysiological Function in Pre-School Children with Leber Congenital Amaurosis.Biomedicines · 2022Article
- Short-Term Outcomes of the First in Vivo Gene Therapy for RPE65-Mediated Retinitis Pigmentosa.Yonsei medical journal · 2022Article
- Clinical Features and Natural History in a Cohort of Chinese Patients with RPE65-Associated Inherited Retinal Dystrophy.Journal of clinical medicine · 2021Article
- Transient electroretinographic abnormalities that mimic those of KCNV2 retinopathy: a case report.Documenta ophthalmologica. Advances in ophthalmology · 2021Article
- Genotype-Phenotype Correlations inJournal of clinical medicine · 2021Article
- Novel biallelic splice-site BBS1 variants in Bardet-Biedle syndrome: a case report of the first Japanese patient.Documenta ophthalmologica. Advances in ophthalmology · 2020Article
- Electroretinographic abnormalities associated with pregabalin: a case report.Documenta ophthalmologica. Advances in ophthalmology · 2020Article
- Coexistence of GNAT1 and ABCA4 variants associated with Nougaret-type congenital stationary night blindness and childhood-onset cone-rod dystrophy.Documenta ophthalmologica. Advances in ophthalmology · 2020Article
- Clinical Course and Electron Microscopic Findings in Lymphocytes of Patients withInternational journal of molecular sciences · 2020Article
- Long-Term Follow-Up of Retinal Degenerations Associated WithTranslational vision science & technology · 2019Article
- A Japanese family with cone-rod dystrophy of delayed onset caused by a compound heterozygous combination of novelHuman genome variation · 2019Article
- Compound heterozygous splice site variants in the SCLT1 gene highlight an additional candidate locus for Senior-Løken syndrome.Scientific reports · 2018Article
Corrections and comments
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Authors and funding
10 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Purpose: To report genetic and clinical features of two unrelated Japanese patients with early onset flecked retinal dystrophy. Methods: Patients underwent comprehensive ophthalmic examinations that included electroretinography (ERG) after 30 min and 24 h of dark adaptation (DA). Disease-causing gene variants were identified with whole exome sequencing (WES), with identified candidates confirmed with direct sequencing. Results: WES identified compound heterozygous Conclusions: The results indicate that the recovery of combined or residual cone responses might be associated with a mild form of
Indexed as
Identifiers
29681726PMC5893010W2902094233What 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.