title: Ophthalmic findings in Angelman syndrome.
abstract: OBJECTIVE
  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.
authors: IRCCS Eugenio Medea, polo di Conegliano e Pieve di Soligo (TV), Italy.
authors: Paola
authors: P
authors: Michieletto
authors: Paolo
authors: P
authors: Bonanni
authors: Stefano
authors: S
authors: Pensiero