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

J AAPOS. 2019 Oct;23(5):253.e1-253.e6. doi: 10.1016/j.jaapos.2019.05.018. Epub 2019 Sep 18.


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 E410V amino acid substitution. CFEOM1 patients all underwent at least 1 procedure to address chin-up posture. Chin-up posture improved from 24° ± 8° before surgery to 10.0° ± 8° postoperatively (P < 0.001). Three CFEOM1 patients developed exotropia after vertical muscle surgery alone; all had the R954W amino acid 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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Child
  • Child, Preschool
  • Female
  • Fibrosis / genetics
  • Fibrosis / physiopathology
  • Fibrosis / surgery*
  • Homeodomain Proteins / genetics*
  • Humans
  • Infant
  • Kinesin / genetics*
  • Male
  • Middle Aged
  • Mutation
  • Oculomotor Muscles / physiopathology
  • Oculomotor Muscles / surgery*
  • Ophthalmologic Surgical Procedures*
  • Ophthalmoplegia / genetics
  • Ophthalmoplegia / physiopathology
  • Ophthalmoplegia / surgery*
  • Strabismus / physiopathology
  • Strabismus / surgery*
  • Treatment Outcome
  • Tubulin / genetics*


  • Homeodomain Proteins
  • KIF21A protein, human
  • PHOX2A protein, human
  • TUBB3 protein, human
  • Tubulin
  • Kinesin

Supplementary concepts

  • Congenital Fibrosis of the Extraocular Muscles