Waelti Stephan, Fischer Tim, Sturm Veit, Heckmann Jan
Department of Radiology and Nuclear Medicine, Kantonsspital St. Gallen, Rorschacher Strasse 95, 9007 St. Gallen, Switzerland.
Department of Ophthalmology, Kantonsspital St. Gallen, Rorschacher Strasse 95, 9007 St. Gallen, Switzerland.
BJR Case Rep. 2020 Nov 17;7(2):20200077. doi: 10.1259/bjrcr.20200077. eCollection 2021 Apr 1.
Combined hamartoma of the retina and retinal pigment epithelium is a rare benign ocular tumour in children, composed of glial cells, vascular tissue, and sheets of pigmented epithelial cells. Although generally thought to be congenital, acquired cases are known to exist. It usually presents with reduced visual acuity and/or strabismus and it can be associated with several syndromes, including Neurofibromatosis Type 2. There is no consensus on the management of combined hamartoma of the retina and retinal pigment epithelium. We present a case, including MRI features, of a 4,5-years-old girl with a combined hamartoma of the retina and retinal pigment epithelium.
视网膜和视网膜色素上皮联合错构瘤是一种儿童罕见的良性眼肿瘤,由神经胶质细胞、血管组织和色素上皮细胞层组成。虽然通常认为是先天性的,但已知存在后天性病例。它通常表现为视力下降和/或斜视,并且可能与多种综合征相关,包括2型神经纤维瘤病。对于视网膜和视网膜色素上皮联合错构瘤的治疗尚无共识。我们报告一例4岁半患有视网膜和视网膜色素上皮联合错构瘤女孩的病例,包括MRI特征。