Abstract
Purpose :
To describe the clinical and genetic characteristics of a cohort of patients with congenital stationary night blindness (CSNB) and investigate myopiac progression under different genetic backgroundscause.
Methods :
Retrospective study. Sixty-one children with CSNB underwent careful ophthalmic examinations, including best-corrected visual acuity (BCVA), spherical equivalent (SE), ocular axis length, ocular alignment, optical coherence tomography, and electroretinography. Panel-based next-generation sequencing was performed to identify pathogenic variants of disease-causing genes.
Results :
Seventy-two pathogenic variants were detected in the 61 CSNB patients, including 45 novel and 27 reported variants. The most frequently involved genes highest detection rates were in the NYX, CACNA1F, and TRPM1 genes. Myopia (96.72%, 59/61) was the most common clinical finding, followed by nystagmus (62.30%, 38/61), strabismus (52.46%, 32/61), and nyctalopia (49.18%, 30/61). 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.
Conclusions :
High myopia and strabismus are distinct clinical features of CSNB that are helpful for diagnosis. Myopiac progression should be noted in CSNB patients whose myopia is not stationary and may be related to their genetic backgroundcause. The novel variants identified in this study will further expand the knowledge ofspectrum of pathogenic variants in CSNB-related genes and help explore the molecular mechanisms of CSNB.
This abstract was presented at the 2024 ARVO Annual Meeting, held in Seattle, WA, May 5-9, 2024.