Juxtapapillary tumors and pseudo‐tumors of the retinal pigmented epithelium

Abstract

SummaryThe most conspicuous retinal pigment epithelium (RPE)‐associated lesion, most of which typically occur in the peripapillary region, is known as the combined hamartoma of the retina and the RPE although not all of them extend to the level of the RPE. This congenital lesion, which also has a vascular and an epiretinal component, often will slowly evolve during observation, not infrequently leading to reduced vision from distortion of the macula. It appears as a greyish‐brown, slightly elevated fundus lesion. It may be associated with neurofibromatosis type 2, although most seem to be isolated. None of the other RPE lesions occurs predominantly in the peripapillary region, although congenital hypertrophy of the RPE, simple hamartoma of the RPE, adenomas and adenocarcinomas of the RPE, and acquired reactive proliferations leading to RPE hyperplasia can do so. Except for the first one, these are slightly to moderately elevated lesions. Finally, rare congenital pigmentary changes such as pigmented optic disk, thought to be of RPE origin, can sometimes be observed.