Outcomes of strabismus surgery in genetically confirmed congenital fibrosis of the extraocular muscles.

ABSTRACT:

Purpose

To detail surgical strategy and strabismus outcomes in a genetically defined cohort of patients with congenital fibrosis of the extraocular muscles (CFEOM).

Methods

A total of 13 patients with genetically confirmed CFEOM (via genetic testing for mutations in KIF21A, PHOX2A, and TUBB3) were retrospectively identified after undergoing strabismus surgery at Boston Children's Hospital and surgical outcomes were compared.

Results

Age at first surgery ranged from 11 months to 63 years, with an average of 3 strabismus procedures per patient. Ten patients had CFEOM1, of whom 9 had the KIF21A R954W amino acid substitution and 1 had the M947T amino acid substitution. Of the 3 with CFEOM3, 2 had the TUBB3 E410K amino acid substitution, and 1 had a previously unreported E

SUBMITTER: Heidary G 

PROVIDER: S-EPMC7075702 | biostudies-literature | 2019 Oct

REPOSITORIES: biostudies-literature