B B Schneider1, D M Maino. 1. Department of Pediatrics and Binocular Vision, Illinois College of Optometry, Chicago 60616.
Abstract
BACKGROUND: Angelman (happy puppet) syndrome is a neuro-developmental condition characterized by an ataxic gait with puppet-like limb movements, paroxysmal bouts of laughter and severe mental retardation. Although considered a rare condition, over 140 cases have been documented since its designation in 1965. To date, only one study has been published investigating the ocular defects of Angelman syndrome. METHODS: In this paper we report the cognitive, motor, systemic, and oculo-visual findings of a 3 year old child with Angelman syndrome. RESULTS: The oculo-visual findings include choroidal hypopigmentation, iris hypopigmentation, strabismus, and hyperopia. CONCLUSIONS: As in many neuro-developmental conditions, early diagnosis is crucial. The ocular findings of fundal/iris hypopigmentation and strabismus with minimal refractive error in conjunction with the cognitive, behavioral, and motoric characteristics the patient exhibits may be the first clues for the diagnosis of Angelman Syndrome in a developmentally delayed child. The initiation of individualized optometric diagnosis and treatment is important for all children with developmental disabilities. The eye care professional should work in concert with speech, occupational, and physical therapists, neurologists, and special educators in the multi-disciplinary treatment and habilitation of all children with disabilities including those with Angelman Syndrome.
BACKGROUND: Angelman (happy puppet) syndrome is a neuro-developmental condition characterized by an ataxic gait with puppet-like limb movements, paroxysmal bouts of laughter and severe mental retardation. Although considered a rare condition, over 140 cases have been documented since its designation in 1965. To date, only one study has been published investigating the ocular defects of Angelman syndrome. METHODS: In this paper we report the cognitive, motor, systemic, and oculo-visual findings of a 3 year old child with Angelman syndrome. RESULTS: The oculo-visual findings include choroidal hypopigmentation, iris hypopigmentation, strabismus, and hyperopia. CONCLUSIONS: As in many neuro-developmental conditions, early diagnosis is crucial. The ocular findings of fundal/iris hypopigmentation and strabismus with minimal refractive error in conjunction with the cognitive, behavioral, and motoric characteristics the patient exhibits may be the first clues for the diagnosis of Angelman Syndrome in a developmentally delayed child. The initiation of individualized optometric diagnosis and treatment is important for all children with developmental disabilities. The eye care professional should work in concert with speech, occupational, and physical therapists, neurologists, and special educators in the multi-disciplinary treatment and habilitation of all children with disabilities including those with Angelman Syndrome.
Authors: Anna M Larson; Julianna E Shinnick; Elias A Shaaya; Elizabeth A Thiele; Ronald L Thibert Journal: Am J Med Genet A Date: 2014-11-26 Impact factor: 2.802