Hereditary occlusive cerebroretinal vasculopathy in two sisters

Background: Retinal microvascular abnormalities associated with multiorgan disease may be observed in a number of systemic illnesses and syndromes. Patients: Two sisters with identical signs of a hereditary cerebroretinal v asculopathy (occlusive retinal antiopathy - cerebral vasculopathy - microce phalus) were treated at the University Hospital of Saarland. Course: Photocoagulation for treatment of neovascular complications seconda ry to retinal ischemia was performed, In one eye a vitrectomy became necess ary because of persistent vitreal hemorrhage. One sister died because of no n treatable intracranial hypertension at the age of 22 years. Conclusions: Interdisciplinary work-up is important in patients with cerebr oretinal disease. Neuropathologic evaluation including brain biopsy and neu roimaging plus ophthalmoscopy and pediatric findings lead to the diagnosis of this rare hereditary, in this case most likely autosomal recessive condi tion. Photocoagulation may limit neovascular complications secondary to ret inal ischemia. A specific form of treatment has, however, not yet been foun d.