Congenital stationary night blindness linked to a CACNA1F gene mutation

Congenital stationary night blindness linked to a CACNA1F gene mutation

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, clin...

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Bibliographic Details
Main Authors: Flávio Mac Cord Medina, Vitor José Gonçalves Martins, Filipi Bartholazi França, Igor André Telles da Cunha, Guilherme Thomé de Carvalho
Format: Article
Language:English
Published: Sociedade Brasileira de Oftalmologia 2025-04-01
Series:Revista Brasileira de Oftalmologia
Subjects:
Night blindness
Night vision
Eye diseases, hereditary
Tomography, optical coherence
Genetic testing
Retinal dystrophies
Patient acuity
Counseling
Genetic therapy
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0034-72802025000100505&lng=en&tlng=en
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