Combined hamartoma of the retina and retinal pigment epithelium associated with neurofibromatosis type-1

Retinal tumors are occasionally seen in patients with neurofibromatosis type-1 (NF-1). These are usually astrocytic hamartomas or angiomas. Combined hamartoma of the retina and retinal pigment epithelium are tumors also described in NF-1, but this association has not been definitively established yet. We report on a child with NF-1, who presented a combined hamartoma of the retina and retinal pigment epithelium in both eyes. The diagnosis of bilateral combined hamartoma of the retina and retinal pigment epithelium in our patient was performed on the basis of the ophthalmoscopic appearance of the lesions. NF-1 was diagnosed following the current international clinical criterion, supplemented by neuroimaging findings. Despite the extreme rarity of this association, we believe that it is not coincidental, as the presence of a hamartomatous retinal lesion in a patient with a systemic hamartomatous neuroectodermic disease would be, at least, rational. Thus, NF-1 must be excluded in patients with combined hamartoma of the retina and retinal pigment epithelium.