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Article

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

Ophthalmic genetics - 1 Jun 2023

Bjeloš Mirjana, Bušić Mladen, Ćurić Ana, Bosnar Damir, Šarić Borna, Marković Leon, Kuzmanović Elabjer Biljana, Rak Benedict

Abstract excerpt

BACKGROUND: 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>G (p.His527Arg). MATERIALS AND METHODS: A case report of a 10-year-old boy with progressive vision loss. The...

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PMID: 35904185
DOI: 10.1080/13816810.2022.2106496

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