Department of Surgery, The Vision Center, Children's Hospital Los Angeles, Los Angeles, California.
Department of Ophthalmology, Roski Eye Institute, University of Southern California, Los Angeles, California.
Retin Cases Brief Rep. 2022 Jul 1;16(4):414-418. doi: 10.1097/ICB.0000000000001064.
To describe the case of a 12-year-old woman with vitreoretinal manifestations of Type 3 Gaucher disease.
A retrospective case report including multimodal imaging and histologic examination of the vitreous.
A 12-year-old woman with a history of Gaucher disease Type 3 was referred to the ophthalmology service for evaluation of vitreous deposits in both eyes. Funduscopic examination was notable for white vitreous opacities in both eyes. Ultra-widefield fluorescein angiography demonstrated areas of blockage associated with the deposits and focal areas of leakage. Optical coherence tomography angiography showed shadow artifact without intrinsic flow at these sites. Three years after presentation, she developed a right hemorrhagic posterior vitreous detachment, requiring pars plana vitrectomy with scleral buckle. A vitreous sample was sent to pathology, which demonstrated Gaucher cells.
Gaucher disease is a rare metabolic condition caused by an autosomal recessive deficiency of glucocerebrosidase. To the best of our knowledge, this is the first report of hemorrhagic posterior vitreous detachment in Type 3 Gaucher disease, including ultra-widefield imaging, optical coherence tomography angiography, and histopathology.
描述一例 12 岁女性患者的眼后段表现为戈谢病 3 型的病例。
回顾性病例报告，包括对玻璃体进行多模态成像和组织学检查。
一名 12 岁患有戈谢病 3 型的女性因双眼玻璃体沉积物而被转至眼科就诊。眼底检查显示双眼均有白色玻璃体混浊。超广角荧光素血管造影显示与沉积物相关的阻塞区和局灶性渗漏区。光学相干断层扫描血管造影显示这些部位存在阴影伪影而无固有血流。就诊 3 年后，她出现右眼出血性后玻璃体脱离，需要行巩膜扣带的玻璃体切除术。玻璃体样本被送检至病理科，证实为戈谢细胞。
戈谢病是一种由葡萄糖脑苷脂酶的常染色体隐性缺乏引起的罕见代谢性疾病。据我们所知，这是首例报道的戈谢病 3 型伴出血性后玻璃体脱离的病例，包括超广角成像、光学相干断层扫描血管造影和组织病理学。
