牵牛花综合征诊断治疗与遗传和发病机制的研究现状及进展

The status and progress of morning glory syndrome

牵牛花综合征（MGS）眼底典型特征为异常扩大呈漏斗状深凹的视盘，其中央见灰白色胶质样组织；视盘周围一圈隆起的嵴，嵴上脉络膜视网膜色素紊乱；数十支纤细的视网膜血管放射状自视盘发出，周边视网膜多存在无灌注区。MGS发病机制尚不明确，可合并眼部及全身系统异常，常累及颅面部、中枢神经、脑血管、内分泌系统等。眼部最常见的合并症为永存原始玻璃体增生症和视网膜脱离（RD）。RD发生机制目前仍不明确，对于明确为孔源性RD的患眼，可采用玻璃体切割手术联合惰性气体或硅油填充以及激光光凝封闭裂孔或扩大的视盘。早期诊断有助于及时进行全身合并症的排查与干预，发现和治疗眼部并发症，最大程度保留患眼残存的视功能。

Morning glory syndrome （MGS） is a congenital optic disc anomaly. The characteristic ophthalmoscopic findings consist of a generally enlarged, funnel-shaped and excavated optic disc, surrounded by an elevated annulus of chorioretinal pigment disturbance, with a central glial tuft, multiple narrow branches of retina vessels radiating from the disc. There are peripheral non-perfusion retinal areas in most cases. The pathogenesis of MGS remains unclear. MGS might be associated with many ocular and systemic abnormalities, involving facial, central nervous, cerebrovaseular and endocrine systems. Persistent hyperplastic primary vitreous and retinal detachments （RD） are the most common ocular complications of MGS. The mechanism RD in MGS is unclear. Vitrectomy with long-acting gas or silicone tamponade and photocoagulation around the breaks or the enlarged disc might be efficient for rhegmatogenous RD of MGS. Early diagnosis is crucial for recognition and treatment of the ocular and systemic complications, and maintenance of the visual function.