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

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 pheno...

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Veröffentlicht in:	Experimental eye research 2021-11, Vol.212, p.108761-108761, Article 108761
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Alleles Child Child, Preschool cis-trans-Isomerases - genetics cis-trans-Isomerases - metabolism DNA - genetics DNA Mutational Analysis Early-onset retinitis pigmentosa Electroretinography Female Genetic Association Studies - methods Genotype Genotype-phenotype correlation Humans Infant Inherited retinal dystrophy Leber congenital amaurosis Male Mutation Pathogenic variant Pedigree Phenotype Retinal Dystrophies - diagnosis Retinal Dystrophies - genetics Retinal Dystrophies - metabolism RPE65 Young Adult
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