Multimodal Retinal Imaging Findings in Two Cousins With VCAN-Related Vitreoretinopathy or Wagner Disease.

M Margarita Parra, Emily Spoth, Cecinio C Ronquillo, Robert Henderson, M Elizabeth Hartnett

Ophthalmic surgery, lasers & imaging retina 2022 Nov

filter terms:

Wagner disease is a rare, nonsyndromic vitreoretinopathy caused by autosomal dominant variants in the versican (VCAN) gene. It is associated with abnormalities of the vitreoretinal interface that can lead to peripheral traction and retinal detachments, which also occur in other vitreoretinopathies such as X-linked retinoschisis (XLRS), familial exudative vitreoretinopathy (FEVR) and Stickler syndrome. There is variability in the clinical phenotype in Wagner disease potentially due to variants in VCAN gene variants. In this article, we report a family harboring the VCAN c.9265+1G>C variant and describe the clinical and retinal findings in two members. [Ophthalmic Surg Lasers Imaging Retina 2022;53:639-643.].

Citation

M Margarita Parra, Emily Spoth, Cecinio C Ronquillo, Robert Henderson, M Elizabeth Hartnett. Multimodal Retinal Imaging Findings in Two Cousins With VCAN-Related Vitreoretinopathy or Wagner Disease. Ophthalmic surgery, lasers & imaging retina. 2022 Nov;53(11):639-643