Novel CACNA1F pathogenic variant in pediatric incomplete X-linked CSNB: integrating portable ERG and genetic analysis.

ABSTRACT:

Purpose

To report a novel hemizygous nonsense variant in the CACNA1F gene associated with congenital stationary night blindness (CSNB) in a pediatric patient, emphasizing the utility of portable electroretinography (ERG) and genetic testing in diagnosing unexplained visual impairments.

Methods

The patient, a 5-year-old male, underwent comprehensive clinical evaluation, including detailed anterior segment and fundus examinations, full-field electroretinogram (ffERG) using a RETeval™ portable device, and whole exome sequencing (WES) to elucidate the genetic basis of his visual impairment. Structural modeling of the mutated protein was performed using SWISS-MODEL and PYMOL.

Results

Best-corrected visual acuity was 0.4 logMAR bilaterally, with unremarkable anterior segmen

SUBMITTER: Wen L 

PROVIDER: S-EPMC11807014 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature