A genome-wide scan of non-coding RNAs and enhancers for refractive error and myopia.

Refractive error (RE) and myopia are complex polygenic conditions with the majority of genome-wide associated genetic variants in non-exonic regions. Given this, and the onset during childhood, gene-regulation is expected to play an important role in its pathogenesis. This prompted us to explore beyond traditional gene finding approaches.

Non-canonical roles of CFH in retinal pigment epithelial cells revealed by dysfunctional rare CFH variants.

Complement factor H (CFH) common genetic variants have been associated with age-related macular degeneration (AMD). While most previous in vitro RPE studies focused on the common p.His402Tyr CFH variant, we characterized rare CFH variants that are highly penetrant for AMD using induced pluripotent stem-cell-derived retinal pigment epithelium (iPSC-RPE).

Gender issues in myopia: a changing paradigm in generations.

Myopia is becoming an important cause of visual impairment. Determining risk profiles will help to develop targeted prevention strategies. This study aims to explore the difference in myopia development between genders in two cohorts representing different generations, and to assess whether hypothetical interventions targeting education or lifestyle factors would reduce a gender gap.

CNN-Based Device-Agnostic Feature Extraction From ONH OCT Scans.

Purpose: Optical coherence tomography (OCT)-derived measurements of the optic nerve head (ONH) from different devices are not interchangeable. This poses challenges to patient follow-up and collaborative studies. Here, we present a device-agnostic method for the extraction of OCT biomarkers using artificial intelligence.