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Angelman syndrome

B B Schneider1, D M Maino

  • 1Department of Pediatrics and Binocular Vision, Illinois College of Optometry, Chicago 60616.

Journal of the American Optometric Association
|July 1, 1993
PubMed
Summary

Angelman syndrome, a neurodevelopmental disorder, presents with ocular issues like hypopigmentation and strabismus. Early optometric diagnosis aids in managing this rare condition.

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Area of Science:

  • Ophthalmology
  • Genetics
  • Developmental Pediatrics

Background:

  • Angelman syndrome is a rare neurodevelopmental disorder.
  • Characterized by ataxia, puppet-like movements, laughter, and severe intellectual disability.
  • Few studies have investigated ocular defects in Angelman syndrome.

Observation:

  • This study reports on a 3-year-old child diagnosed with Angelman syndrome.
  • Detailed cognitive, motor, systemic, and oculo-visual findings were documented.
  • Ocular findings included choroidal and iris hypopigmentation, strabismus, and hyperopia.

Findings:

  • Ocular findings in Angelman syndrome can include hypopigmentation and strabismus.
  • These ocular signs, along with developmental delays, may facilitate early diagnosis.
  • Minimal refractive error was noted in conjunction with other symptoms.

Implications:

  • Early diagnosis of Angelman syndrome is crucial for intervention.
  • Optometric diagnosis and treatment are vital for children with developmental disabilities.
  • Multidisciplinary collaboration is essential for comprehensive habilitation of children with Angelman syndrome.

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