Ophthalmic findings in Angelman syndrome

J AAPOS. 2011 Apr;15(2):158-61. doi: 10.1016/j.jaapos.2010.12.013.


Purpose: To provide detailed information about opthalmological findings in a group of patients with Angelman syndrome (AS).

Methods: Consecutive patients with a genetically confirmed diagnosis of AS were submitted to ophthalmic and orthoptic examinations. Strabismus, visual acuity, cycloplegic refraction, and iris and fundus pigmentation were evaluated. Parents were also examined to compare the extent of fundus pigmentation.

Results: A total of 34 patients were identified, representing 3 genetic classes: deletion, uniparental disomy, and mutation. Ametropia >1 D was present in 97% of cases: myopia in 9%, hyperopia in 76%, and astigmatism in 94%. Myopia and anisometropia were found only in the genetic deletion group. Strabismus, most frequently exotropia, was found in 24 patients (75%). Ocular hypopigmentation was observed in 18 subjects (53%), with choroidal involvement in 3 cases and isolated iris involvement in 4. Hypopigmentation was observed in all of the 3 genetic classes.

Conclusions: Ophthalmic alterations in AS were observed more frequently than has been previously reported, except for ocular hypopigmentation, which was observed less frequently.

MeSH terms

  • Adolescent
  • Adult
  • Angelman Syndrome / diagnosis*
  • Angelman Syndrome / genetics
  • Child
  • Child, Preschool
  • Eye Diseases / diagnosis*
  • Eye Diseases / genetics
  • Female
  • Gene Deletion
  • Humans
  • Hypopigmentation / diagnosis
  • Infant
  • Male
  • Mutation / genetics
  • Pigment Epithelium of Eye / pathology
  • Refraction, Ocular / physiology
  • Strabismus / diagnosis
  • Uniparental Disomy / genetics
  • Visual Acuity / physiology