Work

Congenital stationary night blindness linked to a CACNA1F gene mutation

Year: 2025

Type: article

Abstract: 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 [...]

Source: Revista Brasileira de Oftalmologia

DOI: 10.37039/1982.8551.20250021

Authors: Flávio Mac Cord Medina, Vitor José Gonçalves Martins, Filipi Bartholazi França, Igor André Telles da Cunha, Guilherme Thomé de Carvalho

Institutions: Universidade do Estado do Rio de Janeiro, Hospital Universitário Pedro Ernesto

Language: English

Topic: Retinal Development and Disorders

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W4409494161