Unveiling novel LRP5 pathogenic variant in familial exudative vitreoretinopathy: Diverse phenotypic expressions in a mother-daughter duo.

Abstract excerpt

PURPOSE: This report aims to delineate distinct phenotypes of Familial Exudative Vitreoretinopathy (FEVR) observed in a mother and her daughter, both harboring a novel LRP5 pathogenic variation. METHODS: The investigation involves a retrospective review of medical records accompanied by multimodal imaging. Molecular characterization was performed using whole exon sequencing, and the pathogenic variant was...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Eye Diseases, Hereditary
• Share to Familial Exudative Vitreoretinopathies