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It is of utmost importance to define the molecular diagnosis of patients with retinitis pigmentosa (RP) due to existing targeted therapeutic option: voretigene neparvovec. We provide clinical evidence for pathogenicity reclassification of variants of uncertain significance (VUSs)  RPE65  c.1580A&gt;G (p.His527Arg). A case report of a 10-year-old boy with progressive vision loss. The patient manifested disease highly suggestive of  RPE65  retinal dystrophy: nyctalopia, fairly good central vision, severely depressed full-field electroretinography responses and complete loss of peripheral fundus aut ofluorescence. Invitae Inherited Retinal Disorders Panel identified likely pathogenic mutation  RPE65  c.499G&gt;T (p.Asp167Tyr) and  RPE65  c.1580A&gt;G (p.His527Arg), variant of uncertain significance. Segregation analysis confirmed that these variants are in  trans . We conclude that the variant  RPE65  c.1580A&gt;G (p.His527Arg) has contributed to the pathologic phenotype, demonstrating its significance clearly in the case presented, and should be reclassified according to the criteria of evidence as pathogenic. Therefore, patients with this specific variant in homozygous or compound heterozygous form would likely benefit from genetic treatment based on recombinant adeno-associated virus vector, providing a working  RPE65  gene to act in place of a mutated RPE65 gene.

Pathogenicity reclassification of the RPE65 c.1580A>G (p.His527Arg) - a case report