Combined hamartoma of the retina and RPE: clinical case

Abstract

Introduction: The combined hamartoma of the retina and retinal pigment epithelium (CHR-RPE) is a rare congenital malformation consisting of a mixture of glial tissue, retinal vessels, retina and RPE with varying degrees of disorder at the level of the vitreoretinal interface. It usually occurs isolated, although some cases may have systemic involvement, particularly neurofibromatosis type 1 and 2; Methods: Clinical case report; Results: A 7 years-old-boy was referenced to our department due to divergent strabismus and vision loss in right eye (OD). Visual acuity was 1/10 in OD and 10/10 in left eye (OS) and did not improve with correction. The study of ocular alignment revealed an exotropia in OD. Ophthalmoscopy of OD revealed a slightly elevated gray lesion, with marked vascular tortuosity, almost completely covered by fibroglial tissue with macular distortion and extending beyond the limits of the posterior pole and including the optic disc. Fluorescein angiography, OCT and ophthalmic ultrasound corroborated the diagnosis of a CHR-RPE. The systemic study, which included cerebral magnetic resonance image, was normal. The lesion is stable after 1 year of follow-up; Conclusions: We report a rare case of a CHR-RPE, with relatively late diagnosis, given the grade of foveal commitment and the dimensions of the lesion. Although the diagnosis is essentially clinical, study with angiography, OCT and ophthalmic ultrasound is essential to confirm it and rule out malignant tumors of the retina and choroid.