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Infantile esotropia in a family with TUBB3 mutation associated congenital fibrosis of extraocular muscles.

Ophthalmic genetics - 1 Oct 2022

Jang Yeonji, Kwak Eunseo, An Joon-Yong, Jung Jae Ho

Abstract excerpt

BACKGROUND: The TUBB3 gene has been reported to be associated with type 3 congenital fibrosis of the extraocular muscles (CFEOM). The clinical features of CFEOM3 that are linked to TUBB3 mutations are diverse, ranging from mild ptosis and limitation of extraocular movement to severe ocular motility problems and central nervous system abnormalities. MATERIALS AND METHODS: This was a single retrospective case...

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Identifiers

PMID: 35765833
DOI: 10.1080/13816810.2022.2092753

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