Clinical and genetic studies for a cohort of patients with congenital stationary night blindness

• Published in: Orphanet journal of rare diseases Vol. 19; no. 1; p. 101
• Main Authors: Huang, Lijuan, Bai, Xueqing, Xie, Yan, Zhou, Yunyu, Wu, Jin, Li, Ningdong
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 06-03-2024; BioMed Central; BMC
• Subjects: Blindness; Care and treatment; Congenital stationary night blindness; Diagnosis; Genes; Genetic aspects; Genetic disorders; Genetic research; Genetic testing; Genomes; Genomics; Medical research; Medicine, Experimental; Molecular modelling; Mutation; Myopia; Nyctalopia; Photoreceptors; Proteins; Retinal diseases; Signal transduction; Stationary night blindness; Strabismus; Transient receptor potential proteins; Visual acuity; China; Beijing China; Germany; Congenital stationary night blindness; Strabismus; Mutation; Myopia
• ISSN: 1750-1172; 1750-1172
• DOI: 10.1186/s13023-024-03091-3

Congenital stationary night blindness (CSNB) is an inherited retinal disorder. Most of patients have myopia. This study aims to describe the clinical and genetic characteristics of fifty-nine patients with CSNB and investigate myopic progression under genetic cause.
Sixty-five variants were detected in the 59 CSNB patients, including 32 novel and 33 reported variants. The most frequently involved genes were NYX, CACNA1F, and TRPM1. Myopia (96.61%, 57/59) was the most common clinical finding, followed by nystagmus (62.71%, 37/59), strabismus (52.54%, 31/59), and nyctalopia (49.15%, 29/59). An average SE of -7.73 ± 3.37 D progressed to -9.14 ± 2.09 D in NYX patients with myopia, from - 2.24 ± 1.53 D to -4.42 ± 1.43 D in those with CACNA1F, and from - 5.21 ± 2.89 D to -9.24 ± 3.16 D in those with TRPM1 during the 3-year follow-up; the TRPM1 group showed the most rapid progression.
High myopia and strabismus are distinct clinical features of CSNB that are helpful for diagnosis. The novel variants identified in this study will further expand the knowledge of variants in CSNB and help explore the molecular mechanisms of CSNB.