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, OCT, ERG, and visual fi...

Full beskrivning

Bibliografiska uppgifter

Huvudupphov:	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
Materialtyp:	Artigo
Språk:	Inglês
Utgiven:	MDPI AG 2025-06-01
Serie:	Biomedicines
Ämnen:	<i>PRPH2</i> inherited retinal dystrophies WES OCT ERG
Länkar:	https://www.mdpi.com/2227-9059/13/7/1531
Taggar:	Lägg till en tagg Inga taggar, Lägg till första taggen!