Combined hamartomas of the retinal pigment epithelium and retina.

ABSTRACT

Combined hamartomas of the retinal pigment epithelium (RPE) and retina are rare, benign lesions usually occurring in individuals with no underlying systemic abnormalities. The authors report two cases of combined hamartomas of the RPE and retina. In one case, combined macular hamartomas of the RPE and retina were present in a 5-month-old infant. This is the earliest reported case of bilateral macular involvement. In both patients, multiple cafe-au-lait spots were present, and the diagnosis of neurofibromatosis was considered. The authors suggest that combined hamartomas of the RPE and retina are congenital lesions and may be one of the ophthalmic manifestations of the phakomatoses.