Article
RPE65-related retinal dystrophy: Mutational and phenotypic spectrum in 45 affected patients.
Experimental eye research - 1 Nov 2021
Lopez-Rodriguez Rosario, Lantero Esther, Blanco-Kelly Fiona, Avila-Fernandez Almudena, Martin Merida Inmaculada, Del Pozo-Valero Marta, Perea-Romero Irene, Zurita Olga, Jiménez-Rolando Belén, Swafiri Saoud Tahsin, Riveiro-Alvarez Rosa, Trujillo-Tiebas María José, Carreño Salas Ester, García-Sandoval Blanca, Corton Marta, Ayuso Carmen
Abstract excerpt
INTRODUCTION: Biallelic pathogenic RPE65 variants are related to a spectrum of clinically overlapping inherited retinal dystrophies (IRD). Most affected individuals progress to severe disease, with 50% of patients becoming legally blind by 20 years of age. Deeper knowledge of the mutational spectrum and the phenotype-genotype correlation in RPE65-related IRD is needed. PATIENTS AND METHODS: Forty-five affected...
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