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

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.

A novel ophthalmic viscosurgical device-free phakic intraocular lens implantation makes myopic surgery safer.

Purpose: To assess the efficacy and safety of a novel ophthalmic viscosurgical device-free (OVD-free) method for posterior chamber phakic intraocular lens (PIOL) implantation in myopic eyes.

Methods: In this retrospective cohort study, the medical records of myopic eyes that underwent PIOL (Implantable Collamer Lens, ICL) implantation for myopia correction at the Eye Hospital of Wenzhou Medical University between May 2015 and March 2017 were reviewed. A total of 49 eyes with complete data that met follow up requirements (2 h, 1 day, 1 week, 3 months postoperatively) were recruited.