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REVIEW ARTICLE
Year : 2015  |  Volume : 5  |  Issue : 2  |  Page : 56-62

Complex genetics of familial exudative vitreoretinopathy and related pediatric retinal detachments


Department of Ophthalmology, University of Occupational and Environmental Health, Kitakyushu, Japan

Correspondence Address:
Hiroyuki Kondo
Department of Ophthalmology, University of Occupational and Environmental Health, Number 1-1, Iseigaoka, Yahatanishiku, Kitakyushu 807-8555
Japan
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Source of Support: None, Conflict of Interest: None


DOI: 10.1016/j.tjo.2015.04.002

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Familial exudative vitreoretinopathy (FEVR) is a hereditary vitreoretinal disorder that can cause various types of retinal detachments. The abnormalities in eyes with FEVR are caused by poor vascularization in the peripheral retina. The genetics of FEVR is highly heterogeneous, and mutations in the genes for Wnt signaling and a transcription factor have been reported to be responsible for FEVR. These factors have been shown to be the regulators of the pathophysiological pathways of retinal vascular development. Studies conducted to identify the causative genes of FEVR have uncovered a diverse and complex relationship between FEVR and other diseases; for example, Norrie disease, a Mendelian-inherited disease; retinopathy of prematurity, a multifactorial genetic disease; and Coats disease, a nongenetic disease, associated with pediatric retinal detachments.


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