RPE65-related retinal dystrophy: mutational and phenotypic spectrum in 45 affected patients.
Rosario López‐Rodríguez, Esther Lantero, Fiona Blanco‐Kelly, Almudena Ávila‐Fernández, Inmaculada Martín-Mérida, Marta Del Pozo‐Valero, Irene Perea‐Romero, Olga Zurita, Belén Jimenez‐Rolando, Saoud Tahsin Swafiri, Rosa Riveiro-Álvarez, María José Trujillo-Tiebas, Ester Carreño, Blanca García‐Sandoval, Marta Cortón, Carmen Ayuso
The paper analyzes RPE65 variants in 45 patients with retinal dystrophy, finding associations between variant types and age at onset.
Experimental Eye Research · Sep 4, 2021Peer-reviewedGenetic & Genomic Medicine