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

Segregation of a versican-associated vitreoretinopathy supports the pathogenicity of the VCAN variant. The patterns of structural abnormalities support classical mechanisms of disease that involve local vitreoretinal traction, as well as possible alternative developmental and/or degenerative changes of the retina, RPE, and/or choroid that result from the primary molecular defect.