Familial occurrence of combined pigment epithelial and retinal hamartomas associated with neurofibromatosis 2.

Abstract

Combined pigment epithelial and retinal hamartomas are rare lesions that usually occur sporadically in individuals without systemic abnormalities. However, they have been reported in isolated patients with neurofibromatosis 1 and 2. No familial cases have been reported. The cases of four patients with unilateral macular lesions from three consecutive generations of a single family are presented: two of the patients also have neurofibromatosis 2. The ophthalmoscopic appearance of their ocular lesions resembles combined pigment epithelial and retinal hamartomas. The morphologic differences in the lesions of these 4 patients, whose ages are 8 months, 5 years, 29 years, and 65 years, may serve to demonstrate the evolution of this type of hamartoma.