Abstract：
Lamb-Shaffer syndrome (LSS) is a rare neurodevelopmental disorder, genetically diagnosed in fewer than 100 individuals worldwide. We present a case series of 6 pediatric patients with LSS and describe its ophthalmic manifestations. Strabismus was present in 5 patients, with exotropia being most common. All subjects had significant refractive errors; 5 had astigmatism of at least 2 D. All patients had optic nerve abnormalities, including pallor (4), hypoplasia (2), and anomalous appearance (1), with retinal nerve fiber layer thinning demonstrated in a single subject. Other ophthalmic disorders detected were ptosis (1), nasolacrimal duct obstruction (1), and nystagmus (2).
摘要：
Lamb-Shaffer综合征（LSS）是一种罕见的神经发育障碍，在全世界不到100个人中进行基因诊断。我们介绍了6例LSS儿科患者的病例系列，并描述了其眼科表现。5例患者出现斜视，外斜视是最常见的。所有受试者均有明显的屈光不正；5例散光至少为2D。所有患者均有视神经异常，包括苍白(4)，发育不全（2），和异常外观(1)，在单个受试者中表现出视网膜神经纤维层变薄。检测到的其他眼科疾病是上睑下垂（1），鼻泪管阻塞(1),和眼球震颤（2）。
