Congenital stationary night blindness linked to a CACNA1F gene mutation

Congenital stationary night blindness encompasses a heterogeneous group of inherited retinal dystrophies characterized by impaired scotopic vision from birth. This article provides a comprehensive overview of congenital stationary night blindness, focusing on its genetic underpinnings, clinical manifestations, and diagnostic approaches, with a specific emphasis on variants in the CACNA1F gene. Through a detailed case report of a 49-year-old male with congenital stationary night blindness attributed to a hemizygous variant in CACNA1F, we illustrate typical clinical presentations and correlate them [...]