ArticleHuman mutation2026
Expanding the Genotypic Landscape of Congenital Stationary Night Blindness in an Ethnically Diverse Canadian Population.
Article in Human mutation, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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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.
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Who cites it
1 citing paper in PubMed.
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Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Congenital stationary night blindness (CSNB) is a rare and typically nonprogressive group of genetically heterogeneous disorders resulting in impaired night vision and high myopia with varying levels of visual impairment. Despite being a rare disease with a prevalence of 1:294,000, variants in 22 genes have been associated with specific CSNB phenotypes. Approximately, 13% of cases remain without a genetic diagnosis, highlighting the importance of ongoing genetic studies. Clinical and diagnostic information was collected retrospectively from patients who were diagnosed with CSNB. Patients underwent full ophthalmic examination, including best-corrected visual acuity (BCVA), direct and indirect ophthalmoscopy, retinal imaging, and full field electroretinography. All patients underwent panel-based genetic testing for complete and incomplete CSNB genes to identify DNA variants from buccal swab samples. In the 49-patient cohort (from 38 families) with complete and incomplete CSNB, a conclusive molecular diagnosis was found in 30 patients (61.2%) with a known disease-causing variant in a CSNB gene. We identified 21 novel variants in five genes (
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