Ophthalmology Department (D-TN, DB-G, MPR), APHP, Necker Enfants Malades University Hospital, Paris, France; Paris Descartes University (D-TN, DB-G, MPR), Sorbonne Paris Cité, France; Necker Enfants Malades University Hospital Pediatric Radiology Department, (NB), APHP, Paris, France; INSERM U1000 (NB), Imagine Institute, Paris Descartes University, Paris, France; CNRS Unit FR33636 (DB-G), Paris Descartes University, Paris, France; and Borelli Center (MPR), UMR 9010, CNRS-SSA-ENS Paris Saclay-Paris University, France.
J Neuroophthalmol. 2022 Jun 1;42(2):199-202. doi: 10.1097/WNO.0000000000001412. Epub 2021 Oct 29.
The morning glory disc anomaly (MGDA) is a rare congenital malformation of the optic disc. The association with a significant enlargement of the optic nerve has been recently reported in a few cases, raising the question of potentially associated optic nerve gliomas. The objective was to report the anatomy of optic nerves on MRI in patients with MGDA.
In this retrospective single-center study, files of patients with a clinical diagnosis of MGDA were identified through a rare disease database (CEMARA) and included. We reviewed every cerebral and orbital MRI available, performed between 2008 and 2018. Anatomy of the optic nerve from the optic disc to the chiasm was evaluated on MRI.
Nine patients were included. All presented unilateral MGDA. Age at first MRI was 0.6-62 years, median = 3.8 years. MRI showed posterior protrusion of the globe (staphyloma) centered by the optic disc in all cases (100%). Ipsilateral optic nerve abnormalities were found in all cases (100%). The optic nerve was found thinner than the contralateral one in its intraorbital, intracanalar, and intracranial portions in 1 case (11%); in 8 cases (89%), the thickness of the optic nerve was irregular and varied along its pathway: thick, normal, and/or thin. When gadolinium injection had been performed (3 cases), none exhibited gadolinium enhancement. When serial MRI scanning was available (4 cases), there was no evolution of the abnormalities.
In patients with MGDA, optic nerve and chiasm abnormalities are the rule, with most often a unique pattern of irregular optic nerve thickness-hypertrophy and hypoplasia-from the orbit to the chiasm. Such pattern should be recognized and points to a developmental abnormality, rather than an optic nerve glioma.
牵牛花盘异常(MGDA)是一种罕见的视盘先天性畸形。最近有少数病例报道,该畸形与视神经显著增大有关,这引发了与潜在相关的视神经胶质瘤的问题。本研究的目的是报告 MGDA 患者的视神经 MRI 解剖结构。
本回顾性单中心研究通过罕见病数据库(CEMARA)确定了具有临床诊断为 MGDA 的患者的病历,并进行了回顾性分析。我们评估了 2008 年至 2018 年间所有可用的脑和眶 MRI 图像。评估了视盘至视交叉的视神经解剖结构。
共纳入 9 例患者,均为单侧 MGDA,首诊 MRI 年龄为 0.6-62 岁,中位数为 3.8 岁。所有病例均显示眼球后凸(葡萄肿),以视盘为中心(100%)。所有病例均发现同侧视神经异常(100%)。1 例(11%)患者视神经在眶内、管内和颅内部分比对侧更细;8 例(89%)患者视神经厚度不规则,沿其走行呈增厚、正常和/或变薄。行钆造影检查的 3 例患者均未见钆增强。4 例可进行连续 MRI 扫描,未见病变进展。
在 MGDA 患者中,视神经和视交叉异常是常见表现,最常见的是一种独特的视神经增厚-萎缩模式,从眼眶到视交叉。这种模式应被识别,提示发育异常,而不是视神经胶质瘤。