biostudies-literatureWen LProject of Xiamen Cell Therapy Research Centerthe China Primary Health Care Foundationscientific and technological projects with combination of medicine and engineering in Xiamen of Chinathe National Nature Science Foundation of Chinathe National Basic Research Program of Chinathe Nature Science Foundation of Fujian Province of China33-39https://www.ebi.ac.uk/biostudies/studies/S-EPMC11807014biostudies-literatureUnknown150(1)<h4>Purpose</h4>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.<h4>Methods</h4>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.<h4>Results</h4>Best-corrected visual acuity was 0.4 logMAR bilaterally, with unremarkable anterior segmenDocumenta ophthalmologica. Advances in ophthalmologyNovel CACNA1F pathogenic variant in pediatric incomplete X-linked CSNB: integrating portable ERG and genetic analysis.PMC11807014FB20220086292018YFA01073013502Z202240303502Z20214001819741382022J01110650Liu YYang ZLi SWen LMei SXin YfalseNovel CACNA1F pathogenic variant in pediatric incomplete X-linked CSNB: integrating portable ERG and genetic analysis.<h4>Purpose</h4>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.<h4>Methods</h4>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.<h4>Results</h4>Best-corrected visual acuity was 0.4 logMAR bilaterally, with unremarkable anterior segmen2025-01-01T00:00:00Z2025 Feb2025-04-04T01:33:48.519Z2025-04-04T01:33:48.519ZS-EPMC118070143965227110.1007/s10633-024-09998-3