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RETINAL MANIFESTATIONS OF WALKER-WARBURG SYNDROME IN TWO SIBLINGS WITH RXYLT1 MUTATIONS.

Retinal cases & brief reports - 1 Jan 2024

Jung Eric E, Nagiel Aaron

Abstract excerpt

PURPOSE: We report two siblings with genetically confirmed Walker-Warburg syndrome (WWS), studied with multimodal imaging, who presented with different retinal manifestations. METHODS: This is a retrospective report of two WWS cases with ultra-widefield fundus photography, fluorescein angiography, and ultrasound. Molecular diagnosis was achieved using panel testing and targeted variant testing. RESULTS: Two...

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Identifiers

PMID: 36007194
DOI: 10.1097/ICB.0000000000001322
PMCID: PMC10874297

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