Combined hamartoma of the retina and retinal pigment epithelium as the presenting sign of neurofibromatosis-1.

The authors report a case of combined harmartoma of the retina and retinal pigment epithelium in a 6-year-old child as the presenting sign of neurofibromatosis-1. The patient was followed closely for three years but received no treatment. Observation over these years revealed no significant change in the patient's visual acuity. A referral to the University of California San Francisco (UCSF) Neurofibromatosis Clinic resulted in a diagnosis of neurofibromatosis (NF)-1, and she continues to be observed for further systemic manifestations of this disease. Combined hamartoma of the retina and retinal pigment epithelimicrom, a rare and benign tumor, can be easily mistaken for malignant processes such as retinoblastoma or choroidal melanoma. Ophthalmologists should also be aware of the association with neurofibromatosis and consider this diagnosis when such retinal findings are observed in a child.