Expanding Genetic and Clinical Spectra of Inherited Retinal Dystrophies: Identification of Three Novel <i>PRPH2</i> Variants

Expanding Genetic and Clinical Spectra of Inherited Retinal Dystrophies: Identification of Three Novel <i>PRPH2</i> Variants

<b>Background/Objectives</b>: Pathogenic variants in the <i>PRPH2</i> gene are implicated in a wide spectrum of Inherited Retinal Dystrophies (IRDs), which show significant phenotypic heterogeneity. This study combines genomic, clinical, and instrumental data, including BCVA,...

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Main Authors: Raffaella Cascella, Jacopo Sebastiani, Claudia Strafella, Giulia Calvino, Sarah Andreucci, Michele D’ambrosio, Stefania Zampatti, Jung Hee Levialdi Ghiron, Benedetto Falsini, Andrea Cusumano, Emiliano Giardina
Format: Article
Language:English
Published: MDPI AG 2025-06-01
Series:Biomedicines
Subjects:
<i>PRPH2</i>
inherited retinal dystrophies
WES
OCT
ERG
Online Access:https://www.mdpi.com/2227-9059/13/7/1531
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https://www.mdpi.com/2227-9059/13/7/1531

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