Abstract：
Medical history of 6 patients diagnosed with Williams-Beuren Syndrome (SWB) in pediatric age was revised. All the patients presented characteristic elf facies and cardiovascular abnormalities. All presented good visual acuity, except one case of unilateral amblyopia. The most frequent refractive error was hyperopia (n = 6; 100%) and astigmatism (n = 5; 83.3%). Ocular motility alterations were found in 2 patients (1 case of exophoria with hyperfunction of right inferior oblique and another of congenital endotropia with bilateral hyperfunction of inferior oblique). On the cognitive function, 66.7% (n = 4) had visoperceptive disorders. Other findings were epicanthus (n = 6; 100%) and congenital obstruction of the nasolacrimal duct with unilateral epiphora (n = 1; 16.7%). SWB is a rare disorder with complex ophthalmological and systemic manifestations. For this reason, ophthalmological follow-up of these children is recommended.
摘要：
修订6例患儿年龄诊断为Williams-Beuren综合征(SWB)的病史。所有患者均表现出特征性的精灵相和心血管异常。都表现出良好的视力，除了一例单侧弱视。最常见的屈光不正是远视（n=6；100％）和散光（n=5；83.3％）。2例眼动力改变（1例右下斜肌功能亢进和1例先天性内斜视伴双侧下斜肌功能亢进）。关于认知功能，66.7％（n=4）患有视觉感知障碍。其他发现是内表膜炎（n=6；100％）和先天性鼻泪管阻塞伴单侧泪滴（n=1；16.7％）。SWB是一种罕见的疾病，具有复杂的眼科和全身性表现。出于这个原因,建议对这些儿童进行眼科随访。
