FEVR-like Presentation in an 11q Deletion Syndrome and 16p13.11 Microdeletion

Familial exudative vitreoretinopathy (FEVR) is an inherited disorder characterized by poor development of the retinal vasculature, first described by Criswick and Schepens.1 Peripheral avascularity of the retina is a hallmark of the disease and can lead to neovascularization, vitreous hemorrhage, tractional retinal detachments, exudation, and amblyopia.2 Several genes involved in the Wnt signaling pathway in the retina are associated with the disease, but the most common are the FZD4, LRP5, TSPAN 12, and NDP genes, which are located on chromosomes 11q13 –q23, 7q31, and Xp11.3–5 Chromosome 11q
Source: Journal of Pediatric Ophthalmology and Strabismus - Category: Opthalmology Authors: Source Type: research