RPE65-related retinal dystrophy: Mutational and phenotypic spectrum in 45 affected patients

Author:

Lopez-Rodriguez Rosario,Lantero Esther,Blanco-Kelly Fiona,Avila-Fernandez Almudena,Martin Merida Inmaculada,del Pozo-Valero Marta,Perea-Romero IreneORCID,Zurita Olga,Jiménez-Rolando Belén,Swafiri Saoud Tahsin,Riveiro-Alvarez Rosa,Trujillo-Tiebas María José,Carreño Salas EsterORCID,García-Sandoval Blanca,Corton Marta,Ayuso CarmenORCID

Publisher

Elsevier BV

Subject

Cellular and Molecular Neuroscience,Sensory Systems,Ophthalmology

Reference49 articles.

1. Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark;Astuti;Eur. J. Hum. Genet.,2016

2. Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray;Ávila-Fernández;Mol. Vis.,2010

3. Impact of retinal disease-associated RPE65 mutations on retinoid isomerization;Bereta;Biochemistry,2008

4. RPE65-Related leber congenital amaurosis/early-onset severe retinal dystrophy;Chao,2020

5. The natural history of inherited retinal dystrophy due to biallelic mutations in the RPE65 gene;Chung;Am. J. Ophthalmol.,2019

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