[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 vasculopathy (occlusive retinal angiopathy--cerebral vasculopathy--microcephalus) were treated at the University Hospital of Saarland.

COURSE

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.

CONCLUSIONS

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.