ArticleMolecular genetics & genomic medicine2020
Novel homozygous CLN3 missense variant in isolated retinal dystrophy: A case report and electron microscopic findings.
Article in Molecular genetics & genomic medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
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Who cites it
12 citing papers in PubMed, 1 synthesis or guideline pooled it, 23 citations in OpenAlex.
- Recommendations for the diagnosis and management of cln3 disease (batten disease) using the Delphi consensus methodology.Orphanet journal of rare diseases · 2026Guideline
- Whole-Exome Sequencing in a Consanguinity-Enriched South Indian Retinitis Pigmentosa Cohort: Diagnostic Yield and Molecular Spectrum.Ophthalmology science · 2026Article
- Democratization of genetic screening for inherited retinal degenerations: Historical context and new challenges.American journal of ophthalmology case reports · 2023Article
- Clinical findings in eyes with BEST1-related retinopathy complicated by choroidal neovascularization.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2022Observational
- Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis.PLoS genetics · 2021Article
- A new PDE6A missense variant p.Arg544Gln in rod-cone dystrophy.Documenta ophthalmologica. Advances in ophthalmology · 2021Article
- Vitamin A deficiency after prolonged intake of an unbalanced diet in a Japanese hemodialysis patient.Documenta ophthalmologica. Advances in ophthalmology · 2021Article
- A novel deletion variant in CLN3 with highly variable expressivity is responsible for juvenile neuronal ceroid lipofuscinoses.Acta neurologica Belgica · 2021Article
- Genotype-Phenotype Correlations inJournal of clinical medicine · 2021Article
- Article
- Novel biallelic TRPM1 variants in an elderly patient with complete congenital stationary night blindness.Documenta ophthalmologica. Advances in ophthalmology · 2021Article
- Novel homozygous CLN3 missense variant in isolated retinal dystrophy: A case report and electron microscopic findings.Molecular genetics & genomic medicine · 2020Article
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundBiallelic CLN3 gene variants have been found in either juvenile-onset neuronal ceroid lipofuscinosis (JNCL) or isolated retinal dystrophy. It has been reported that most JNCL patients carry a common 1.02-kb deletion variant homozygously. Clinical characteristics of patients with biallelic CLN3 missense variants are not well elucidated.
methodsWe described a 26-year-old Japanese male patient with isolated retinal dystrophy. Whole-exome sequencing (WES) and transmission electron microscopy (TEM) were performed.
resultsWhole-exome sequencing identified a novel homozygous CLN3 missense variant [c.482C>T; p.(Ser161Leu)]. Ophthalmoscopy revealed retinal degeneration and macular atrophy, and later attenuated retinal vessels. Severely reduced responses were observed in both rod and cone electroretinograms. In TEM of the patient's lymphocytes, fingerprint profiles, which are specific findings in CLN3-associated JNCL, were observed in 16/624 (2.56%) lymphocytes of the patient, who has never exhibited neurological signs during the 13-year follow-up period.
conclusionOur results indicated that this novel CLN3 missense variant is associated with teenage-onset isolated retinal dystrophy. This is the first report of any patient with CLN3-associated disorder in the Japanese population. Although fingerprint profiles have never been reported in CLN3-associated isolated retinal dystrophy, these profiles were observed, albeit infrequently, suggesting that frequency of the fingerprint profiles might depend on variant types.
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