Congenital aqueductal stenosis (CAS) is a common etiology of hydrocephalus that occurs in a subset of infants and may be linked to an increased incidence of ophthalmological abnormalities and delayed developmental milestones. Although hydrocephalus is common and widely studied, sparse literature exists on patients with isolated (no identifiable genetic link) CAS along with analysis of ophthalmological manifestations. In this study, the authors sought to describe the ophthalmological abnormalities and delayed developmental milestones of patients with isolated CAS.

Data of patients with CAS were prospectively entered and monitored in a surgical database maintained by the Department of Neurological Surgery at Children’s Hospital of Pittsburgh from January 2005 to October 2016. Patients with a family history of congenital hydrocephalus, positive testing for genetic forms of aqueductal stenosis, other congenital abnormalities suggesting an underlying genetic syndrome, and stenosis/obstruction due to secondary causes were excluded from this study. Prenatal and perinatal history, CSF diversion history, and a variety of outcomes, including ophthalmological deficits and developmental milestones, were collected and analyzed.

A total of 41 patients with isolated CAS were identified, with a mean follow-up duration of 6 years. Among that cohort, 26 patients (63.4%) developed neuroophthalmological complications, which were further stratified. Fourteen patients (34.1%) developed strabismus and 11 (26.8%) developed astigmatism, and 1 patient (2.4%) with papilledema was recorded. Among patients with ophthalmological abnormalities, 76.9% had delayed developmental milestones (p = 0.045).

Patients with CAS were found to have increased risk of ophthalmological abnormalities requiring correction, along with an increased risk of delayed developmental milestones. Importantly, there was a significant correlation between the development of ophthalmological abnormalities and delayed developmental milestones that was independent of CSF diversion history. Larger patient cohort studies are required to explore whether earlier development of hydrocephalus, as is the case in CAS, causes elevated rates of neurological and ophthalmological complications, and if earlier CSF diversion correlates with improved outcomes.

先天性导水管狭窄 (CAS) 是脑积水的常见病因，发生在一部分婴儿中，可能与眼科异常发生率增加和发育里程碑延迟有关。尽管脑积水很常见并得到广泛研究，但关于孤立性（无可识别的遗传联系）CAS 患者以及眼科表现分析的文献很少。在这项研究中，作者试图描述孤立性 CAS 患者的眼科异常和发育里程碑延迟。

2005 年 1 月至 2016 年 10 月，在匹兹堡儿童医院神经外科维护的外科数据库中前瞻性输入和监测 CAS 患者的数据。 有先天性脑积水家族史、导水管狭窄遗传形式检测呈阳性的患者、其他提示潜在遗传综合征的先天性异常和继发性原因导致的狭窄/阻塞被排除在本研究之外。收集并分析了产前和围产期病史、脑脊液转移史以及各种结果，包括眼科缺陷和发育里程碑。

共确定了 41 名孤立性 CAS 患者，平均随访时间为 6 年。在该队列中，26 名患者 (63.4%) 出现了神经眼科并发症，并进一步分层。14 名患者 (34.1%) 出现斜视，11 名 (26.8%) 出现散光，1 名患者 (2.4%) 出现视乳头水肿。在有眼科异常的患者中，76.9% 的发育里程碑延迟（p = 0.045）。

发现 CAS 患者需要矫正的眼科异常的风险增加，同时发育里程碑延迟的风险也增加。重要的是，眼科异常的发展与独立于脑脊液转移史的延迟发育里程碑之间存在显着相关性。需要更大规模的患者队列研究来探索脑积水的早期发展是否会导致神经系统和眼科并发症的发生率升高，以及早期脑脊液分流是否与改善的结果相关。