Clinical and molecular features of PRCD-associated retinopathy.

PurposeTo describe the clinical and genetic characteristics of patients with biallelic disease-causing variants in the PRCD (Progressive Rod-Cone Degeneration) gene.MethodsMulticentre, retrospective cohort study of 19 patients from 13 families across nine reference centres in six countries. Clinical assessments included best-corrected visual acuity (BCVA), kinetic visual field (VF), optical coherence tomography, and fundus autofluorescence (FAF). BCVA and VF area progression rates were estimated using linear mixed models on log-converted variables. Genetic testing was performed via Sanger sequencing, targeted gene panels, whole-exome sequencing, or whole-genome sequencing.ResultsMedian age at symptom onset was 11 years, with nyctalopia as the main initial complaint. Mean age at low vision and legal blindness in the best-seeing eye was 35 and 38 years, respectively. BCVA declined at 0.046 logMAR/year (95% CI: 0.027-0.065; p