VHL综合征合并视盘小凹及黄斑裂孔1例

A case of von Hippel-Lindau syndrome with optic disc pit and macular hole

1例主诉为左眼视物不清10余天的69岁女性就诊眼科。既往因右肾脏肿瘤、左肾嗜铬细胞瘤于外院行手术切除治疗。检查见左眼视盘颞上侧圆形碗状小凹,黄斑区见1个约1/5视盘直径大小的黄斑裂孔,6:00、11:00方位周边部视网膜分别可见1个约1.5视盘直径大小的血管瘤。结合患者既往史、眼底表现、辅助检查结果确诊为左眼黄斑裂孔、左眼视盘小凹、Von Hippel-Lindau(VHL)综合征。行左眼玻璃体切除术及黄斑裂孔修复术后,患者视力提高。

A 69-year-old female patient presented to the ophthalmology department with complaints of blurred vision in the left eye for more than 10 days.Her medical history revealed a history of right renal tumor and left pheochromocytoma,which were treated with surgical resection at an external institution.Ophthalmic examination revealed a temporal superior cup-shaped optic disc pit in the left eye,along with a macular hole approximately 1/5 the size of the optic disc diameter in the macular region.Additionally,peripheral retinal examination at the 6 o′clock and 11 o′clock positions showed vascular tumors,each approximately 1.5 times the size of the optic disc diameter.Based on the patient′s medical history,fundus findings,and auxiliary examination results,a diagnosis of macular hole in the left eye,optic disc pit in the left eye,and Von Hippel-Lindau(VHL)syndrome was established.Subsequently,the patient underwent left vitrectomy and macular hole repair surgery,leading to an improvement in visual acuity.