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Article

Multimodal Evaluation and Management of Wagner Syndrome-Three Patients from an Affected Family.

Genes - 8 Sept 2024

Szeligowski Tomasz, Cehajic-Kapetanovic Jasmina, Raji Shabnam, Purohit Ravi, Amin Hoda, Patel Chetan K, Xue Kanmin

Abstract excerpt

Wagner syndrome is a rare autosomal dominant vitreoretinopathy caused by mutations in chondroitin sulphate proteoglycan 2 (CSPG2)/Versican (VCAN). Here, we present a retrospective case series of a family pedigree with genetically confirmed Wagner syndrome (heterozygous VCAN exon 8 deletion), as follows: a 34-year-old mother (P1), 12-year-old daughter (P2), and a 2-year-old son (P3). The phenotype included...

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Identifiers

PMID: 39336769
DOI: 10.3390/genes15091178
PMCID: PMC11431714

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