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Cohort studyHuman mutation · 2026

Expanding the Genotypic Landscape of Congenital Stationary Night Blindness in an Ethnically Diverse Canadian Population.

Jennifer Ling, Mustansir Pindwarawala, Cheryl Y Gregory-Evans … Kevin Gregory-Evans

OphthalmologyCohort study

A genetic diagnosis was confirmed in most patients with congenital stationary night blindness.

Expanding the Genotypic Landscape of Congenital Stationary Night Blindness in an Ethnically Diverse Canadian Population.

Jennifer Ling … Kevin Gregory-Evans

Human mutation · 2026

Background

Congenital stationary night blindness (congenital stationary night blindness) 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.

Methods

In the 49-patient cohort (from 38 families) with complete and incomplete congenital stationary night blindness, a conclusive molecular diagnosis was found in 30 patients (61.2%) with a known disease-causing variant in a congenital stationary night blindness gene.

n = 38 families

61.2%

Results

61.2%

genetic testing pinpointed the exact gene cause in most patients

n = 38 families

More results

Despite being a rare disease with a prevalence of 1:294,000, variants in 22 genes have been associated with specific congenital stationary night blindness phenotypes.

Approximately, 13% of cases remain without a genetic diagnosis, highlighting the importance of ongoing genetic studies.

More results

After in silico modeling and clinical correlation, 18 of these novel variants were considered pathogenic or likely pathogenic.

Prevalence of congenital stationary night blindness in the Mennonite community was estimated to be 1:967, approximately 300 times the expected prevalence.

“

Conclusion

Establishing a molecular diagnosis of congenital stationary night blindness is critical because it enables many actionable outcomes including further family testing, genetic counseling, and access to future clinical trials.

Post

Expanding the Genotypic Landscape of Congenital Stationary Night Blindness in an Ethnically Diverse Canadian Population.

A genetic diagnosis was confirmed in most patients with congenital stationary night blindness.

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