Department of Ophthalmology, Emory University School of Medicine, Atlanta, Georgia, USA.
Emory University School of Medicine, Atlanta, Georgia, USA.
Orbit. 2024 Feb;43(1):109-114. doi: 10.1080/01676830.2022.2080231. Epub 2022 Jun 2.
Gardner syndrome (GS) is a rare genetic disorder characterized by numerous intestinal colon polyps with various extraintestinal manifestations. Osteomas are a known extracolonic manifestation of GS and can affect the orbit, as seen in our patient, as well as 13 other cases documented in literature. Excision of large orbital osteomas can be successful with a multi-disciplinary approach as presented in this article. Ophthalmologists can even be the first to diagnose GS, usually via the presence of congenital hypertrophy of the retinal pigment epithelium (CHRPE) lesions. Untreated, 100% of colon polyps will transform into cancer, thus it is important to be aware of this rare syndrome with ophthalmic manifestations and screen patients with osteomas for GS.
Gardner 综合征(GS)是一种罕见的遗传性疾病,其特征为大量肠结肠息肉和各种肠外表现。骨瘤是 GS 的一种已知的结肠外表现,可影响眼眶,正如我们的患者所见,以及文献中记录的其他 13 例病例。通过本文介绍的多学科方法,可成功切除大型眼眶骨瘤。眼科医生甚至可以通过先天性视网膜色素上皮肥大(CHRPE)病变首先诊断 GS。如果不治疗,100%的结肠息肉将转化为癌症,因此,了解这种具有眼部表现的罕见综合征并对骨瘤患者进行 GS 筛查非常重要。