Ophthalmic findings in apert syndrome prior to craniofacial surgery

Am J Ophthalmol. 2006 Aug;142(2):328-30. doi: 10.1016/j.ajo.2006.02.046.


Purpose: To determine ophthalmic findings in patients with Apert syndrome before craniofacial surgery.

Design: A cross-sectional retrospective study.

Methods: Review of 63 cases (27 males, 36 females) with Apert syndrome without craniofacial surgery from the Australian Craniofacial Unit. Demographic data, age of presentation, and ophthalmic findings at the first presentation were recorded.

Results: At a mean age of four years and median age of one year, at least 14% of patients had amblyopia, 60% of patients had strabismus, 19% of patients had anisometropia, and 34% of eyes had ametropia. Exposure keratopathy and corneal scarring occurred in at least 13% of patients and optic atrophy in at least 8% of patients.

Conclusions: This study demonstrated that patients with Apert syndrome were at risk of amblyopia because of high prevalence of refractive errors, strabismus, and anisometropia. Exposure keratopathy and corneal scarring occurred commonly.

MeSH terms

  • Acrocephalosyndactylia / complications
  • Acrocephalosyndactylia / diagnosis*
  • Acrocephalosyndactylia / surgery
  • Adolescent
  • Adult
  • Amblyopia / diagnosis
  • Amblyopia / etiology
  • Australia / epidemiology
  • Child
  • Child, Preschool
  • Cross-Sectional Studies
  • Eye Diseases / diagnosis*
  • Eye Diseases / etiology
  • Female
  • Humans
  • Infant
  • Male
  • Optic Atrophy / diagnosis
  • Optic Atrophy / etiology
  • Prevalence
  • Refractive Errors / diagnosis
  • Refractive Errors / etiology
  • Retrospective Studies
  • Risk Factors
  • Strabismus / diagnosis
  • Strabismus / etiology