Multimodal Retinal Imaging Findings in Two Cousins With VCAN-Related Vitreoretinopathy or Wagner Disease.
Ophthalmic Surg Lasers Imaging Retina
; 53(11): 639-643, 2022 11.
Article
en En
| MEDLINE
| ID: mdl-36378611
ABSTRACT
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;53639-643.].
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Degeneración Retiniana
/
Enfermedades de la Retina
/
Desprendimiento de Retina
Tipo de estudio:
Diagnostic_studies
Límite:
Humans
Idioma:
En
Revista:
Ophthalmic Surg Lasers Imaging Retina
Año:
2022
Tipo del documento:
Article