Title
COMBINED HAMARTOMA OF THE RETINA AND RPE IN A SEVEN-YEAR-OLD BOY: CASE REPORT
Introduction
To report a case of combined hamartoma of the retina and RPE diagnosed in a seven-year-old male and its clinical and complementary findings.
Methods
Case Report.
Results
A healthy seven-year-old male presented with congenital divergent strabismus and long-standing severe vision loss in his left eye (OS). His parents and six siblings did not show any retinal disease (one brother had glaucoma). BCVA was counting fingers on OS and 20/20 on OD. Ophthalmological examination showed relative afferent pupillary defect on OS. Fundus examination of OS revealed a multicolored elevated optic nerve lesion surrounded by spots of RPE hyperpigmentation, fibrosis, and a displaced macula. The optic disc OCT revealed an elevated area with augmented superficial hyperreflectivity, a gradual transition to the non-affected retina and areas of schisis inside the lesion. The USG examination displayed an irregular, elevated lesion, with heterogenous internal echogenicity, with neither scleral excavation nor internal vascularization, measuring 7.57 x 8.56 x 3.39 mm (antero-posterior, latero-lateral and height diameters, respectively). The patient was examined six months and one year later without progression of the tumor.
Discussion
CHRRPE is a rare congenital and benign lesion that generally affects Caucasian male youngsters (diagnosis is made around fifteen years-old) and presents as a unilateral, mainly peripapilar, multicolored, elevated lesion with abnormal intrinsic vasculature. Differential diagnoses include choroid nevus and melanoma, RPE adenoma and adenocarcinoma, “morning glory” syndrome and retinoblastoma. The lesion is usually observed twice a year and the treatment is required only if complications arise, such as: tractional retinal detachment, epiretinal membrane, choroidal neovascularization and vitreous hemorrhage. The prognosis depends on the size, localization of the tumor and associated complications.
Keywords
Combined Hamartoma of the retina and RPE, CHRRPE, Retina, RPE
Area
CLINICAL CASE
Authors
Jean Vítor de Aguiar Lédo Coutinho, Arnaldo Furman Bordon, Renata Oliveira Cardoso Porto, Bruna Moussallem, Patrícia Bortolai