Congenital stationary night blindness: an update and review of the disease spectrum and genotype-phenotype correlations
Journal Title: Eye Science (Yanke Xuebao) - Year 2025, Vol 40, Issue 2
Abstract
Congenital Stationary Night Blindness (CSNB) represents a group of highly heterogeneous inherited retinal diseases(IRDs) primarily caused by impaired signal transmission between photoreceptor cells and bipolar cells in the retina. The main clinical features include stationary night blindness and dark adaptation dysfunction, often accompanied by early-onset myopia, nystagmus, strabismus, and hyperopia. Electroretinography (ERG) plays a crucial role in the diagnosis, classification, and therapeutic management of CSNB. Although CSNB is classified as a rare disease due to its low incidence, its true prevalence is likely underestimated, partly because of its mild symptoms, inconspicuous fundus manifestations, and frequent oversight of retinal function tests in clinical practice, leading to high rates of underdiagnosis and misdiagnosis. With advances in molecular genetics, extensive research has elucidated the pathogenic mechanisms of various genetic defects in CSNB, particularly those associated with early-onset myopia. These studies have also enhanced our understanding of retinal signal transduction and the pathogenesis of myopia. However, gene therapy for CSNB remains in its early stages. This review aims to comprehensively explore the disease spectrum of CSNB, including clinical manifestations, imaging and functional phenotypic characteristics across different subtypes, and associated genetic pathogenic mechanisms. We also summarize genotype-phenotype correlations, review the latest research advancements, and discuss future directions. By doing so, this review seeks to improve the understanding of CSNB among domestic researchers, provide guidance for clinical diagnosis and treatment, and offer new insights for future research.
Authors and Affiliations
Mei SHEN, Shiying LI
Keywords
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- EP ID EP761518
- DOI 10.12419/24111001
- Views 44
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