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Article

Detailed structural abnormalities associated with a novel VCAN variant in a family with versican vitreoretinopathy.

Ophthalmic genetics - 1 Aug 2025

Zhong Anny, Sumaroka Alexander, Tsui Jonathan C, O'Neil Erin C, Cideciyan Artur V, Datz Emily, Bedoukian Emma C, Aleman Tomas S, Scoles Drew

Abstract excerpt

PURPOSE: To understand the retina micropathology in a family with a novel variant in VCAN. METHODS: Two sisters ages 16 (proband) and 18 years old and their 48-year-old father underwent comprehensive ophthalmic evaluations. Multimodal imaging was performed with spectral domain optical coherence tomography, ultrawide field short-wavelength fundus autofluorescence, and pseudocolor imaging. RESULTS: Cataracts were...

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Source

Identifiers

PMID: 40140649
DOI: 10.1080/13816810.2025.2483421

Genes

VCAN
RPE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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