| Autor: |
Parra MM, Spoth E, Ronquillo CC, Henderson R, Hartnett ME |
| Jazyk: |
angličtina |
| Zdroj: |
Ophthalmic surgery, lasers & imaging retina [Ophthalmic Surg Lasers Imaging Retina] 2022 Nov; Vol. 53 (11), pp. 639-643. Date of Electronic Publication: 2022 Nov 01. |
| DOI: |
10.3928/23258160-20221026-01 |
| Abstrakt: |
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.] . |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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