Astrocytic tumors of the retina. Differentiation of sporadic tumors from phakomatosis-associated tumors.

A single, 1.3-cm, intraocular tumor, composed of interlacing, spindle-shaped astrocytes, involved the retina and optic disc of a 13-month-old girl. Neither the patient nor her family had stigmas of a phakomatosis. We found 42 previous cases of histologically documented astrocytic tumors of the retina. Twenty-four patients (57%) had tuberous sclerosis, six patients (14%) had neurofibromatosis, and 12 patients (29%) were otherwise normal. Patients with tuberous sclerosis usually had multiple, peripheral, retinal tumors containing giant "astrocytes." Patients with neurofibromatosis and otherwise normal patients more frequently had disc-based tumors. However, three patients (50%) with neurofibromatosis had multiple tumors, whereas multiplicity occurred in only one of the patients in the sporadic group. We conclude that if the tumor is single, is disc based, and lacks giant cells, the patient is not at great risk of tuberous sclerosis.