Maio Tiago, Lemos José, Moreira Jorge, Sampaio Filipa
Ophthalmology, Hospital Pedro Hispano, Matosinhos, Portugal.
BMJ Case Rep. 2018 Oct 25;2018:bcr-2018-226662. doi: 10.1136/bcr-2018-226662.
The tuberous sclerosis complex is a rare disease, with autosomal dominant transmission, with multisystemic involvement including ophthalmologic. Retinal hamartomas and retinal achromic patch are the most frequent ocular findings. Other ophthalmic signs and symptoms are relatively rare in this disease.We describe the case of a young woman with tuberous sclerosis who presented with horizontal binocular diplopia and decreased visual acuity without complaints of nausea, vomiting or headache. She had right abducens nerve palsy, pale oedema of both optic discs and retinal hamartomas. An obstructive hydrocephalus caused by an intraventricular expansive lesion was identified in brain CT.Observation by the ophthalmologist is indicated in all confirmed or suspected cases of tuberous sclerosis to aid in clinical diagnosis, monitoring of retinal hamartomas or identification of poorly symptomatic papilloedema.
结节性硬化症是一种罕见疾病，呈常染色体显性遗传，多系统受累，包括眼部。视网膜错构瘤和视网膜色素脱失斑是最常见的眼部表现。其他眼部体征和症状在该疾病中相对少见。我们描述了一名患有结节性硬化症的年轻女性病例，她出现水平性双眼复视和视力下降，无恶心、呕吐或头痛主诉。她有右侧外展神经麻痹、双侧视盘苍白水肿和视网膜错构瘤。脑部CT检查发现脑室内扩张性病变导致梗阻性脑积水。对于所有确诊或疑似结节性硬化症的病例，均建议眼科医生进行观察，以协助临床诊断、监测视网膜错构瘤或识别症状不明显的视乳头水肿。
