Maino D M, Kofman J, Flynn M F, Lai L
Department of Pediatrics/Binocular Vision, Illinois College of Optometry, Illinois Eye Institute, Chicago 60616.
J Am Optom Assoc. 1994 May;65(5):339-46.
Sotos syndrome (cerebral gigantism) is a congenital syndrome characterized by large body size for patient age, advanced bone age, and unusual facial characteristics with varying levels of cognitive, developmental and perceptual deficits. While more than 150 cases have been reported, only a single case report has been published in the ophthalmic literature. This study briefly reviews the pertinent aspects of this syndrome and reports on the medical, physical, developmental and ocular manifestations of 32 subjects.
Our patient population was obtained from several schools and colleges of optometry and private offices and clinics of optometrists and ophthalmologists. The Sotos Syndrome Support Association assisted in obtaining patients for this study as well. All children had been previously diagnosed as having SS. Commonly accepted methods for evaluating young, non-verbal, and/or handicapped children were used.
Our findings indicate that moderate to high refractive error (hyperopia), nystagmus, and strabismus (esotropia) are commonly associated conditions of this syndrome.
Since many of our subjects exhibited these amblyogenic precursors, a routine optometric vision evaluation should be an essential part of the individual educational and habilitation plan for all children with Sotos syndrome.
索托斯综合征（脑性巨人症）是一种先天性综合征，其特征为患儿年龄与身体大小不符、骨龄超前以及具有不同程度认知、发育和感知缺陷的特殊面部特征。虽然已报道150多例病例，但眼科文献中仅发表过1例病例报告。本研究简要回顾了该综合征的相关方面，并报告了32名受试者的医学、身体、发育和眼部表现。
我们的患者群体来自几所验光学校和学院以及验光师和眼科医生的私人诊所。索托斯综合征支持协会也协助为该研究招募患者。所有儿童此前均被诊断为患有索托斯综合征。采用了评估年幼、不会说话和/或残疾儿童的常用方法。
我们的研究结果表明，中度至高度屈光不正（远视）、眼球震颤和斜视（内斜视）是该综合征的常见相关病症。
由于我们的许多受试者都表现出这些致弱视的先兆，常规验光视力评估应成为所有索托斯综合征患儿个体教育和 habilitation 计划的重要组成部分。 （注：habilitation 此处可能有误，推测应为 rehabilitation“康复”）
