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Article

Novel mutation in TSPAN12 associated with familial exudative vitreoretinopathy in a Chinese pedigree.

Ophthalmic genetics - 1 Feb 2022

Song Zhen, Li Mo, Wang Chang, Wang Yu, Zhang Lihua, Li Na, Yang Ruifang, Sun Ping

Abstract excerpt

BACKGROUND: Familial exudative vitreoretinopathy (FEVR) is a rare retinal disorder characterised by incomplete retinal vascular development. Symptoms vary widely from none to blindness even within the same family. Multiple genes related to the Wnt pathway have been found to be associated with FEVR. Recent studies identified tetraspanin 12 (TSPAN12) as a cause of the autosomal dominant inheritance form of FEVR....

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Identifiers

PMID: 34445920
DOI: 10.1080/13816810.2021.1970193

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