Sagnik Sen, Lorenzo Fabozzi, Kaoru Fujinami, Yu Fujinami-Yokokawa, Genevieve A Wright, Andrew Webster, Omar Mahroo, Anthony G Robson, Michalis Georgiou, Michel Michaelides
PURPOSE: To describe the clinical and genetic features, and explore the natural history of retinopathy associated with IQCB1 variants in children and adults with retinopathy. DESIGN: Retrospective cohort study at a single tertiary care referral center. METHODS: The study recruited 19 patients with retinopathy, harboring likely disease-causing variants in IQCB1. Demographic data and clinical presentation, best corrected visual acuity (BCVA), fundus appearance, optical coherence tomography (OCT) and autofluorescence features, electroretinography (ERG) and molecular genetics are reported...
March 22, 2024: American Journal of Ophthalmology