Article

<i>RPE65</i>-related retinal dystrophy: mutational and phenotypic spectrum in 45 affected patients

2021-01-20

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Background</h4> Biallelic pathogenic RPE65 variants are related to a spectrum of clinically overlapping inherited retinal dystrophies (IRD). Most affected individuals show a severe progression, with 50% of patients legally blind by 20 years of age. A better knowledge of the mutational spectrum and the phenotype-genotype correlation in RPE65 -related IRD is needed. <h4>Methods</h4> Forty-five...

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Literature Corpus work: 62acaa77-24bf-5aab-8890-5cea70720438
DOI: 10.1101/2021.01.19.21249492

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