Foveal congenital simple hamartoma of retinal pigment epithelium: A report of two cases

Abstract

We report two cases with foveal congenital simple hamartoma of the retinal pigment epithelium (CSHRPE), as both patients presented to our retina services complaining of a unilateral decreased vision. Full ophthalmic examination and multimodal imaging were performed including fundus photography, fundus autofluorescence, optical coherence tomography, fluorescein angiography, and electrophysiological testing. Both patients presented with 20/80 vision in the affected eyes. Foveal CSHRPE was found in both eyes, along with parapapillary hyperpigmented rim, multiple pinpoint macular lesions, and few posterior pole hyperpigmented lesions. Multifocal electroretinogram showed diminished central amplitude in both eyes, with three-dimensional topography map showing blunted foveal peaks in one eye and the absence of a central peak in the other patient. Both patients had a stable vision and clinical examination of the CSHRPE during 5 and 6 years follow up, respectively. Foveal CSHRPE is usually symptomatic and results in a decline in visual acuity. Follow-up of these patients showed stable vision and clinical examination.

Multifocal Congenital Simple Hamartoma of the Retinal Pigment Epithelium: A Multimodal Imaging Case Study

“…Shields et al reported associated features in a series of five cases of CSHRPE [ 2 ], including minimally dilated retinal feeding arteries and draining retinal veins (100%), mild adjacent retinal traction (80%), retinal exudation (20%), and vitreous pigmented cells (20%). Additionally, Badawi et al documented a case of CSHRPE with a solitary tumor associated with multiple posterior pole small hyperpigmented lesions and peripheral hypopigmented lesions indicating RPE atrophy [ 14 ].…”

“…The rarity of CSHRPE, along with its asymptomatic nature, particularly in patients with a history of trauma, pigmentary variations [ 4 , 14 ], or exposure to Toxoplasma gondii parasite or other infectious diseases complicates its accurate diagnosis during the initial evaluation. However, advanced imaging modalities play a crucial role in differentiation, offering valuable insights into the structural aspects of CSHRPE.…”

“…Multifocal electroretinography (mfERG) and microperimetry findings in CSHRPE do not consistently demonstrate characteristic features of the tumor, primarily due to the lesion being smaller in size than the stimulating spot size. While some studies report normal mfERG patterns despite reduced vision [ 6 ], others note a marked reduction in central amplitude [ 14 ]. Microperimetry and adaptive optics have been used to assess retinal sensitivity and photoreceptor arrangement in CSHRPE cases, revealing consistent sensitivity responses over the pigmented tumor and focal decreases in retinal sensitivity in areas of RPE atrophy adjacent to the tumor [ 4 ].…”