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

Experimental Eye Research
R. Lopez-RodriguezCarmen Ayuso


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. Forty-five affected subjects from 27 unrelated families with a clinical diagnosis of RPE65-related IRD were included. Clinical evaluation consisted of self-reported ophthalmological history and objective ophthalmological examination. Patients' genotype was classified according to variant class (truncating or missense) or to variant location at different protein domains. The main phenotypic outcome measure was age at onset (AAO) of symptomatic disease and a Kaplan-Meier analysis of disease symptom event-free survival was performed. Twenty-nine different RPE65 variants were identified in our cohort, 7 of them novel. Patients carrying two missense alleles showed a later disease onset than those with 1 or 2 truncating variants (log-rank test p <0.05). While 60% of patients carrying a missense/missense genotype presented symptoms before or during the first year of life, almost all ...Continue Reading


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Aug 30, 2008·Biochemistry·Grzegorz BeretaKrzysztof Palczewski
Oct 31, 2014·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Xiu-Feng HuangZi-Bing Jin

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