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Clinical Heterogeneity in Two Siblings Harbouring a Heterozygous PRPH2 Pathogenic Variant.

Klinische Monatsblatter fur Augenheilkunde - 1 Apr 2023

Sanlialp Ayse, Escher Pascal, Schaller André, Todorova Margarita

Abstract excerpt

PURPOSE: The aim of the study was to describe the clinical and genetic correlation of a c.469 G>A p.(Asp157Asn) heterozygous pathogenic variant in PRPH2 in two siblings of Italian origin. PATIENTS AND METHODS: Both patients underwent ophthalmic examination, electrophysiological testing, autofluorescence imaging, and optical coherence tomography (OCT). Screening for pathogenic variants of the obtained DNA from the...

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PMID: 37164409
DOI: 10.1055/a-2034-6250

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