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.