ABSTRACT

Background: Koolen-de Vries syndrome (KdVS) (OMIM #610443) or 17q21.31 microdeletion syndrome, is a rare genetic disorder characterized by developmental and speech delay, intellectual disability, epilepsy, hypotonia, characteristic facial features, and congenital malformations of multiple organs.

The purpose of the current study was to describe ocular manifestations and surgical interventions in six KdVS pediatric patients, and to review the ocular associations of this condition.

Materials and Methods: A retrospective review of consecutive KdVS subjects who were treated in the ophthalmology department at The Children’s Hospital of Philadelphia over a 12-year period (2009–2020) was performed. Main Outcome Measures were ocular and ocular adnexal abnormalities, and ophthalmic surgical interventions.

Results: Six patients were included (4 females (67%), mean age of 3.1 years (range 0.1 to 8.1 years)). The most common ocular findings were strabismus (n = 3/6, 50%), ptosis (n = 3/6, 50%), and hyperopia (n = 3/6, 50%). Two patients had amblyopia. Four patients required surgical intervention, including strabismus repair (n = 3), and bilateral levator resection and medial canthopexies (n = 1).

Conclusions: KdVS is associated with various ocular and ocular adnexal abnormalities. Most commonly ptosis, strabismus and hyperopia. Most cases required surgical intervention, most commonly strabismus repair. These findings mandate early ophthalmic evaluation with regular follow-up in this unique group of children.

摘要

背景：Koolen-de Vries 综合征 (KdVS) (OMIM #610443) 或 17q21.31 微缺失综合征是一种罕见的遗传性疾病，其特征是发育和语言发育迟缓、智力障碍、癫痫、肌张力减退、特征性面部特征和多发性先天性畸形。器官。

本研究的目的是描述 6 名 KdVS 儿科患者的眼部表现和手术干预，并回顾这种情况的眼部关联。

材料和方法：对在费城儿童医院眼科治疗 12 年（2009-2020 年）的连续 KdVS 受试者进行了回顾性研究。主要结果指标是眼部和眼部附件异常，以及眼科手术干预。

结果： 包括 6 名患者（4 名女性（67%），平均年龄 3.1 岁（范围 0.1 至 8.1 岁））。最常见的眼部表现是斜视 (n = 3/6, 50%)、上睑下垂 (n = 3/6, 50%) 和远视 (n = 3/6, 50%)。两名患者患有弱视。四名患者需要手术干预，包括斜视修复（n = 3）、双侧提肌切除术和内侧角固定术（n = 1）。

结论：KdVS 与各种眼部和眼部附件异常有关。最常见的是上睑下垂、斜视和远视。大多数病例需要手术干预，最常见的是斜视修复。这些发现要求对这组独特的儿童进行早期眼科评估和定期随访。