Leonardo Colombo, Gabriele Bonetti, Paolo Enrico Maltese, Giancarlo Iarossi, Lucia Ziccardi, Paolo Fogagnolo, Valentino De Ruvo, Vittoria Murro, Dario Giorgio, Benedetto Falsini, Giorgio Placidi, Salvatore Martella, Eleonora Galantin, Matteo Bertelli, Luca Rossetti
INTRODUCTION: Retinitis pigmentosa (RP), a heterogeneous inherited retinal disorder causing gradual vision loss, affects over 1 million people worldwide. Pathogenic variants in CNGA1 and CNGB1 genes, respectively accounting for 1% and 4% of cases, impact the cyclic nucleotide-gated channel in rod photoreceptor cells. The aim of this study is to describe and compare genotypic and clinical characteristics of a cohort of patients with CNGA1- or CNGB1-related RP and to explore potential genotype-phenotype correlations...
May 4, 2024: Ophthalmic Research