PDF(Pubmed)
Abstract：
Axenfeld-Rieger Syndrome (ARS) is comprised of a group of autosomal dominant disorders that are each characterized by anterior segment abnormalities of the eye. Mutations in the transcription factors FOXC1 or PITX2 are the most well-studied genetic manifestations of this syndrome. Due to the rarity this syndrome, ARS-associated neurological manifestations have not been well characterized. The purpose of this systematic review is to characterize and describe ARS neurologic manifestations that affect the cerebral vasculature and their early and late sequelae. PRISMA guidelines were followed; studies meeting inclusion criteria were analyzed for study design, evidence level, number of patients, patient age, whether the patients were related, genotype, ocular findings, and nervous system findings, specifically neurostructural and neurovascular manifestations. 63 studies met inclusion criteria, 60 (95%) were case studies or case series. The FOXC1 gene was most commonly found, followed by COL4A1, then PITX2. The most commonly described structural neurological findings were white matter abnormalities in 26 (41.3%) of studies, followed by Dandy-Walker Complex 12 (19%), and agenesis of the corpus callosum 11 (17%). Neurovascular findings were examined in 6 (9%) of studies, identifying stroke, cerebral small vessel disease (CSVD), tortuosity/dolichoectasia of arteries, among others, with no mention of moyamoya. This is the first systematic review investigating the genetic, neurological, and neurovascular associations with ARS. Structural neurological manifestations were common, yet often benign, perhaps limiting the utility of MRI screening. Neurovascular abnormalities, specifically stroke and CSVD, were identified in this population. Stroke risk was present in the presence and absence of cardiac comorbidities. These findings suggest a relationship between ARS and neurovascular findings; however, larger scale studies are necessary inform therapeutic decisions.
摘要：
Axenfeld-Rieger综合征（ARS）由一组常染色体显性遗传疾病组成，每种疾病的特征都是眼睛的前节异常。转录因子FOXC1或PITX2的突变是该综合征研究最充分的遗传表现。由于这种综合症的罕见，ARS相关的神经系统表现尚未得到很好的表征。本系统综述的目的是表征和描述影响脑血管系统及其早期和晚期后遗症的ARS神经表现。遵循PRISMA指南；分析符合纳入标准的研究设计，证据水平,患者数量,患者年龄,患者是否相关，基因型，眼部发现,和神经系统的发现，特别是神经结构和神经血管表现。63项研究符合纳入标准，60（95％）是案例研究或案例系列。FOXC1基因最常见，其次是COL4A1，然后是PITX2。在26项研究中，最常见的结构性神经系统发现是白质异常（41.3％），其次是丹迪-沃克复合体12(19%)，和call体11（17％）的发育不全。在6项（9％）研究中检查了神经血管发现，识别中风，脑小血管病（CSVD），动脉的弯曲/扩张,其中,没有提到moyamoya.这是第一个系统的审查调查的遗传，神经学,以及与ARS的神经血管关联。结构性神经表现很常见，但通常是良性的，也许限制了MRI筛查的实用性。神经血管异常,特别是中风和CSVD，在这个人群中被发现。在存在和不存在心脏合并症的情况下存在中风风险。这些发现表明ARS和神经血管发现之间的关系；然而，更大规模的研究是必要的，告知治疗决策。
