ArticleTranslational vision science & technology2020
Clinical and Genetic Characteristics of 15 Affected Patients From 12 Japanese Families with
Article in Translational vision science & technology, 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, 22 citations in OpenAlex.
- Article
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- Clinical and Genetic Characteristics of a Chinese Occult Maculopathy Cohort.Translational vision science & technology · 2026Article
- Genetic Spectrum of Negative Electroretinograms in a Predominantly Pediatric Cohort of 177 Patients.Investigative ophthalmology & visual science · 2025Article
- Clinical and Biochemical Characterization of Specific GUCY2D Alleles Associated With a Rare Form of Night Blindness.Investigative ophthalmology & visual science · 2025Article
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- AAmerican journal of ophthalmology case reports · 2024Article
- IFT88 maintains sensory function by localising signalling proteins alongLife science alliance · 2024Article
- RBP3-Retinopathy-Inherited High Myopia and Retinal Dystrophy: Genetic Characterization, Natural History, and Deep Phenotyping.American journal of ophthalmology · 2024Article
- Distinct Clinical Effects of Two RP1L1 Hotspots in East Asian Patients With Occult Macular Dystrophy (Miyake Disease): EAOMD Report 4.Investigative ophthalmology & visual science · 2024Article
- A natural history study of autosomal dominant GUCY2D-associated cone-rod dystrophy.Documenta ophthalmologica. Advances in ophthalmology · 2023Article
- Article
- cGMP Signaling in Photoreceptor Degeneration.International journal of molecular sciences · 2023Review
- Phenotype-Based Genetic Analysis Reveals Missing Heritability of ABCA4-Related Retinopathy: Deep Intronic Variants and Copy Number Variations.Investigative ophthalmology & visual science · 2022Article
- Novel homozygous nonsynonymous variant of CNNM4 gene in a Chinese family with Jalili syndrome.Molecular genetics & genomic medicine · 2022Article
- Article
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Authors and funding
26 authors at 12 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Purpose: To determine the clinical and genetic characteristics of patients with Methods: Fifteen patients from 12 families with inherited retinal disorder (IRD) and harboring Results: The median age of onset/examination was 22.0/38.0 years (ranges, 0-55 and 1-73) with a median VA of 0.80/0.70 LogMAR units (ranges, 0.00-1.52 and 0.10-1.52) in the right/left eye, respectively. Macular atrophy was identified in seven patients (46.7%), and two had diffuse fundus disturbance (13.3%), and six had an essentially normal fundus (40.0%). There were 11 patients with generalized cone-rod dysfunction (78.6%), two with entire functional loss (14.3%), and one with confined macular dysfunction (7.1%). There were nine families with ADCORD, one with ARCORD, one with ADMD, and one with ARLCA. Ten Conclusions: This large cohort study delineates the disease spectrum of Translational Relevance: The obtained data help to monitor and counsel patients, especially in East Asia, as well as to design future therapeutic approaches.
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