Department of Ophthalmology, University of Padova, Padova, Italy.
Padova University Hospital ERN-EYE Center, Padova, Italy.
Eur J Ophthalmol. 2023 Sep;33(5):NP67-NP70. doi: 10.1177/11206721221125035. Epub 2022 Sep 5.
To report and investigate proptosis in a young girl with Noonan syndrome.
Observational case report.
A 16-year-old girl affected by Noonan syndrome underwent a complete ophthalmological examination showing bilateral proptosis with hypofunction of lateral rectus and superior oblique muscles. Visual acuity, color discrimination and fundus examination were unremarkable. The orbital MRI showed bilateral proptosis and symmetrical enlargement of extraocular muscles, with bellies thickening and tendon sparing. The young patient also complained restrictive hypertrophic cardiomyopathy.
Proptosis is an uncommon ocular manifestation of Noonan syndrome and its pathophysiology has never been clarified. The MRI evidence of extraocular muscles enlargement associated with hypertrophic cardiomyopathy, led us to hypothesize a common altered pathway beneath these features, more specifically the MAP kinase pathway, since extraocular and cardiac muscles share a mesenchymal embryological origin.
报告并研究一名患有努南综合征的年轻女孩的眼球突出症。
观察性病例报告。
一名 16 岁的努南综合征女孩接受了全面的眼科检查，结果显示双侧眼球突出，伴有外直肌和上斜肌功能低下。视力、色觉和眼底检查均无异常。眼眶 MRI 显示双侧眼球突出，眼外肌对称性增大，眼外肌腹增厚，肌腱不受累。该年轻患者还伴有限制性肥厚型心肌病。
眼球突出是努南综合征的一种罕见眼部表现，其发病机制尚不清楚。MRI 证据显示眼外肌增大与肥厚型心肌病有关，这使我们假设这些特征下存在共同的改变途径，更具体地说是 MAP 激酶途径，因为眼外肌和心肌具有共同的间充质胚胎起源。
