Inherited retinal dystrophies (IRDs) are congenital retinal degenerative diseases that have
various inheritance patterns, including dominant, recessive, X-linked, and mitochondrial …

Familial exudative vitreoretinopathy (FEVR) is a hereditary ocular disorder characterized by
incomplete vascularization/abnormality of peripheral retina. Four of the identified disease …

Familial exudative vitreoretinopathy (FEVR) is a severe retinal vascular disease that causes
blindness. FEVR has been linked to mutations in several genes associated with inactivation …

Familial exudative vitreoretinopathy (FEVR) is a complex hereditary eye disorder
characterized by incomplete development of the retinal vasculature, which thereby affects …

The β-catenin has two intrinsically disordered regions in both C-and N-terminal domains that
trigger the formation of phase-separated condensates. Variants in its C-terminus are …

Aims and Rationale: The inner retina is supplied by three intraretinal capillary plexi whereas
the outer retina is supplied by the choroidal circulation: NDP is essential for normal …

Background Familial exudative vitreoretinopathy (FEVR) is an inheritable blinding disorder
with clinical and genetic heterogeneity. Heterozygous variants in the CTNNB1 gene have …

Purpose: Familial exudative vitreoretinopathy (FEVR) is a blinding retinal vascular disease.
Clinically, FEVR is characterized by incomplete vascularization of the peripheral retina and …

Objective To explore the clinical manifestations and search for the variants of six related
genes (LRP5, FZD4, TSPAN12, NDP, KIF11 and ZNF408) in Chinese patients with familial …

Purpose To expand the mutation spectrum of patients with familial exudative
vitreoretinopathy (FEVR) disease. Participants 74 probands (53 families and 21 sporadic …