A novel splicing variant of VCAN identified in a Chinese family initially diagnosed with familial exudative vitreoretinopathy.

ABSTRACT:

Background

Wagner vitreoretinopathy (WVR) is a rare autosomal dominant vitreoretinopathy caused by pathogenic variants in the VCAN gene. The aim of this study was to report a novel splicing variant in VCAN identified in a three-generation Chinese family initially diagnosed with familial exudative vitreoretinopathy and to describe the patients' clinical features.

Methods

Four affected individuals from a three-generation family underwent detailed ophthalmic examinations, including best-corrected visual acuity by Snellen E chart, slit-lamp biomicroscopy, indirect ophthalmoscopy under pupil dilatation, ocular B-ultrasonography, optical coherence tomography scans, and fundus autofluorescence. Targeted next-generation sequencing was performed to identify variants of the disease-ca

SUBMITTER: Zhong J 

PROVIDER: S-EPMC9938748 | biostudies-literature | 2023 Feb

REPOSITORIES: biostudies-literature