@article {1466899,
	title = {Outcomes of strabismus surgery in genetically confirmed congenital fibrosis of the extraocular muscles},
	journal = {J AAPOS},
	year = {2019},
	month = {2019 Sep 18},
	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{\textquoteright}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 (AA) substitution and 1 had the M947T AA substitution. Of the 3 with CFEOM3, 2 had the TUBB3 E410K AA substitution, and 1 had a previously unreported E410V AA substitution. CFEOM1 patients all underwent at least 1 procedure to address chin-up posture. Chin-up posture improved from 24{\textdegree} {\textpm} 8{\textdegree} before surgery to 10.0{\textdegree} {\textpm} 8{\textdegree} postoperatively (P \&lt; 0.001). Three CFEOM1 patients developed exotropia after vertical muscle surgery alone; all had the R954W AA substitution. Postoperatively, 1 CFEOM1 patient developed a corneal ulcer. All CFEOM3 patients appeared to have underlying exposure keratopathy, successfully treated with prosthetic replacement of the ocular surface ecosystem (PROSE) lens in 2 patients. CONCLUSIONS: CFEOM is a complex strabismus disorder for which surgical management is difficult. Despite an aggressive surgical approach, multiple procedures may be necessary to achieve a desirable surgical effect. Knowledge of the underlying genetic diagnosis may help to inform surgical management.},
	issn = {1528-3933},
	doi = {10.1016/j.jaapos.2019.05.018},
	author = {Heidary, Gena and MacKinnon, Sarah and Elliott, Alexandra and Barry, Brenda J and Engle, Elizabeth C and Hunter, David G}
}
