Cavernous hemangioma of the retina: Genetic and central nervous system involvement

A 1967 report described retinal “telangiectasia” in a brother and sister. The brother also had concurrent immune deficiency with hypogammaglobulinemia. Several reports have since been published on similar retinal vascular lesions, which have been termed “cavernous hemangioma of the retina.” In retrospect, it is likely that this sibling pair also had cavernous hemangioma of the retina and brain, and that the hypogammaglobulinemia was an independent problem. Our report provides a 19-year follow-up on three generations of this family. The affected generations support the diagnosis of a phakomatosis having autosomal dominant inheritance. Cavernous hemangioma of the retina is usually a stable disease, but there is a potential risk of intracranial hemorrhage from cavernous hemangioma of the brain. Family members, with and without fundus findings, should therefore undergo computed tomography or magnetic resonance imaging of the brain, because neurosurgical prophylaxis or treatment may be indicated.