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

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.

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.