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Article

Asymptomatic adults in a single family with familial exudative vitreoretinopathy and TSPAN12 variant.

Ophthalmic genetics - 1 Oct 2019

Carroll Robert M, Kim Benjamin J

Abstract excerpt

Background: Familial exudative vitreoretinopathy (FEVR) is a disorder of retinal angiogenesis associated with mutations in multiple genes related to the Wnt pathway. The disease is characterized by a spectrum of ophthalmic manifestations that range from asymptomatic to blinding. While FEVR has classically been considered a diagnosis made in the pediatric population, it can be seen in adults and lead to vision...

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Identifiers

PMID: 31755339
DOI: 10.1080/13816810.2019.1686157

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