Congenital simple hamartoma of the retinal pigment epithelium - A study of five cases

Purpose: To report 5 patients with presumed congenital, simple hamartoma of the retinal pigment epithelium (RPE). Design: Retrospective, observational small case series. Participants: Five patients with a black macular tumor of the RPE. Main Outcome Measures: Initial tumor features, initial associated fundus features, tumor course on follow-up, and visual acuity outcome. Results: In all 5 cases, the tumor involved the macula and the mean distance to the foveola was 0.4 mm (median, 0.2 mm; range, 0.2-1.2 mm). In all cases, the tumor was darkly pigmented, with full-thickness retinal and RPE involvement and minimal protrusion into the vitreous cavity. The mean ultrasonographic tumor thickness was 1.6 mm (median, 1.4 mm; range, 1.1-2.5 mm). Associated features included minimally dilated retinal feeding artery and draining vein (100%), surrounding mild retinal traction (80%), retinal exudation (20%), and vitreous pigmented cells (20%). None of the lesions had associated subretinal fluid, macular edema, or macular hole. Visual acuity was 20/20 in 3 cases and slightly decreased in the other 2 cases because of foveal traction. The findings remained stable in 3 patients who had adequate follow-up. We chose to classify this lesion as congenital simple hamartoma of the RPE to differentiate it from combined hamartoma of the retina and RPE, congenital hypertrophy of the RPE, adenoma or adenocarcinoma of the RPE, and acquired hyperplasia of the RPE, which are different clinical entities. Conclusions: Congenital hamartoma of the RPE is typically a black, full-thickness retinal mass, often adjacent to the foveola. Despite such location, the visual acuity was affected minimally.