Open AccessFamilial Exudative Vitreoretinopathy: Pathophysiology, Diagnosis, and Management
Author(s) -
Zujaja Tauqeer,
Yoshihiro Yonekawa
Publication year - 2018
Publication title -
asia-pacific journal of ophthalmology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.163
H-Index - 20
ISSN - 2162-0989
DOI - 10.22608/apo.201855
Subject(s) - proliferative vitreoretinopathy , medicine , retinal detachment , retina , coats' disease , ophthalmology , fluorescein angiography , disease , neovascularization , retinal , retinopathy , pathology , angiogenesis , biology , neuroscience , diabetes mellitus , endocrinology
Familial exudative vitreoretinopathy (FEVR) is a heritable vitreoretinopathy characterized by anomalous retinal vascular development. The principal feature of the disease is an avascular peripheral retina. This in turn can cause further pathological changes including neovascularization, exudation, hemorrhage, and retinal detachment. The biological basis of the disease is thought to be from defects in the Wnt signaling pathway. Many gene mutations have been implicated, and these can be inherited in an autosomal dominant (most common), autosomal recessive, and X-linked recessive fashion. Examination with wide-field fluorescein angiography is essential and can identify the disease in its earlier stages, enabling timely treatment, in addition to helping identify asymptomatic family members. The current treatment paradigm involves laser photocoagulation of the avascular peripheral retina for neovascular sequelae and vitreoretinal surgery for progressive retinal detachment. Further studies are underway to better characterize this complex vitreoretinopathy.