Multimodal imaging in congenital simple hamartoma of retinal pigment epithelium (CSHRPE): optical coherence tomography (OCT), autofluorescence and oct angiography, a review of the literature and case presentation

Abstract

According to Gass Retinal Pigment Epithelial Hamartoma (RPEH) is a presumed congenital pigment epithelial adenomas or primary pigment epithelial hyperplasia.1 RPEH is a non-hereditary benign retinal tumour of unknown aetiology, possibly due to translocation between the short arms of chromosomes 11 and 18, like Combined Hamartoma of the Retina and Retinal Pigment Epithelium.2 Congenital simple Hamartoma of Retinal Pigment Epithelium (CSHRPE) was first recognized in 1981 by Laqua3 and later characterized and named in 1989 by Gass, who reported ten cases.1 In 2003, Shields documented the largest subsequent case series, consisting of five patients.4 CSHRPE is a rare intraocular finding that is described as a unilateral, focal, nodular, jet black lesion. That frequently occur at or near the macula, no known association with changes in the surrounding neurosensory retina, RPE or choroid, nor have they been related with exudation or hemorrhage . Usually, involves the full thickness of the retina through the I.L.M. (Internal Limiting Membrane) with an umbrella shaped in the inner retinal surface.1 The patients are asymptomatic, and usually have normal visual acuity. For this reason though these lesions are congenital, they often are not identified until adulthood. Although, sometimes children may develop amblyopia and strabismus due to macular involvement.