Schneider B B, Maino D M
Department of Pediatrics and Binocular Vision, Illinois College of Optometry, Chicago 60616.
J Am Optom Assoc. 1993 Jul;64(7):502-6.
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.
In this paper we report the cognitive, motor, systemic, and oculo-visual findings of a 3 year old child with Angelman syndrome.
The oculo-visual findings include choroidal hypopigmentation, iris hypopigmentation, strabismus, and hyperopia.
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.
安吉尔曼（快乐木偶）综合征是一种神经发育疾病，其特征为共济失调步态伴木偶样肢体运动、阵发性大笑和严重智力迟钝。尽管被认为是一种罕见疾病，但自1965年被命名以来，已有超过140例病例被记录。迄今为止，仅有一项关于安吉尔曼综合征眼部缺陷的研究发表。
在本文中，我们报告了一名3岁安吉尔曼综合征患儿的认知、运动、全身及眼视觉检查结果。
眼视觉检查结果包括脉络膜色素减退、虹膜色素减退、斜视和远视。
与许多神经发育疾病一样，早期诊断至关重要。眼底/虹膜色素减退和斜视且屈光不正轻微，再结合患者表现出的认知、行为和运动特征，可能是发育迟缓儿童诊断安吉尔曼综合征的首要线索。对所有发育障碍儿童而言，启动个性化验光诊断和治疗很重要。眼科护理专业人员应与言语治疗师、职业治疗师、物理治疗师、神经科医生以及特殊教育工作者协同合作，对包括安吉尔曼综合征患儿在内的所有残疾儿童进行多学科治疗和康复训练。
