Schmidbauer J M, Voges M, Käsmann-Kellner B, Graf N, Henn W, Ruprecht K W
Augenklinik mit Poliklinik, Universitätskliniken des Saarlandes, Homburg.
Klin Monbl Augenheilkd. 2000 Oct;217(4):246-51. doi: 10.1055/s-2000-10357.
Retinal microvascular abnormalities associated with multiorgan disease may be observed in a number of systemic illnesses and syndromes.
Two sisters with identical signs of a hereditary cerebroretinal vasculopathy (occlusive retinal angiopathy--cerebral vasculopathy--microcephalus) were treated at the University Hospital of Saarland.
Photocoagulation for treatment of neovascular complications secondary to retinal ischemia was performed. In one eye a vitrectomy became necessary because of persistent vitreal hemorrhage. One sister died because of non treatable intracranial hypertension at the age of 22 years.
Interdisciplinary work-up is important in patients with cerebroretinal disease. Neuropathologic evaluation including brain biopsy and neuroimaging plus ophthalmoscopy and pedriatic findings lead to the diagnosis of this rare hereditary, in this case most likely autosomal recessive condition. Photocoagulation may limit neovascular complications secondary to retinal ischemia. A specific form of treatment has, however, not yet been found.
与多器官疾病相关的视网膜微血管异常可能在多种全身性疾病和综合征中观察到。
两名患有遗传性脑视网膜血管病变（闭塞性视网膜血管病——脑血管病——小头畸形）相同症状的姐妹在萨尔兰大学医院接受治疗。
对视网膜缺血继发的新生血管并发症进行了光凝治疗。由于持续性玻璃体出血，一只眼睛需要进行玻璃体切除术。一名姐妹在22岁时因无法治疗的颅内高压死亡。
对于脑视网膜疾病患者，多学科检查很重要。包括脑活检和神经影像学检查以及眼底镜检查和儿科检查结果在内的神经病理学评估可导致诊断出这种罕见的遗传性疾病，在这种情况下很可能是常染色体隐性疾病。光凝可能会限制视网膜缺血继发的新生血管并发症。然而，尚未找到具体的治疗方法。
