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Article

Familial exudative vitreoretinopathy with TGFBR2 mutation without signs of Loeys-Dietz syndrome.

Ophthalmic genetics - 1 Oct 2021

Asano Toshiaki, Oku Kazuma, Kondo Hiroyuki

Abstract excerpt

Background: Familial exudative vitreoretinopathy (FEVR) is an inherited retinal disorder with high genetic heterogeneity, and it is characterized by a defect in the development of the retinal vascular system. Loeys-Dietz syndrome (LDS) is an autosomal dominant systemic connective tissue disorder that is caused by mutations in the genes related to transforming growth factor signaling systems including the TGFBR2...

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Identifiers

PMID: 34102952
DOI: 10.1080/13816810.2021.1938137

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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