{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Wen L"],"funding":["Project of Xiamen Cell Therapy Research Center","the China Primary Health Care Foundation","scientific and technological projects with combination of medicine and engineering in Xiamen of China","the National Nature Science Foundation of China","the National Basic Research Program of China","the Nature Science Foundation of Fujian Province of China"],"pagination":["33-39"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11807014"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["150(1)"],"pubmed_abstract":["<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 segmen"],"journal":["Documenta ophthalmologica. Advances in ophthalmology"],"pubmed_title":["Novel CACNA1F pathogenic variant in pediatric incomplete X-linked CSNB: integrating portable ERG and genetic analysis."],"pmcid":["PMC11807014"],"funding_grant_id":["FB2022008629","2018YFA0107301","3502Z20224030","3502Z20214001","81974138","2022J01110650"],"pubmed_authors":["Liu Y","Yang Z","Li S","Wen L","Mei S","Xin Y"],"additional_accession":[]},"is_claimable":false,"name":"Novel CACNA1F pathogenic variant in pediatric incomplete X-linked CSNB: integrating portable ERG and genetic analysis.","description":"<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 segmen","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Feb","modification":"2025-04-04T01:33:48.519Z","creation":"2025-04-04T01:33:48.519Z"},"accession":"S-EPMC11807014","cross_references":{"pubmed":["39652271"],"doi":["10.1007/s10633-024-09998-3"]}}