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April 2009

Last Month's BLINK
Combined Hamartoma of the Retina and Retinal Pigment Epithelium
Written by Pablo Gili, MD, Fundación Hospital Alcorcón, Madrid, Spain
(PDF 180 KB)

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A 24-year-old woman presented with visual acuity of 20/20 in the right eye and 20/400 in the left eye. She was ini­tially diagnosed with toxoplasmosis scar in the left macula and had undergone surgery for exotropia of the left eye. Fundus examination of the left eye revealed a grayish lesion involving the macula with elevation of the retina, tortuous vessels, epiretinal membrane and hyperpigmentation of the retinal pigment epithe­lium (RPE). The right eye was normal.

Further examination with 3-D fluorescein angiography con­firmed several of the fundus findings: epiretinal membrane, tractional distortion of the retinal vessels, and hyperpigmenation of the RPE (slight foveolar hypofluorescence surrounded by hyper­fluorescence).

The patient was diagnosed with combined hamartoma of the retina and RPE. This condition involves benign tumors that can cause significant and permanent visual loss. The differential diag­nosis of combined hamartoma includes any fundus lesion that has some degree of pigmentation, elevation, vascular tortuosity and glial proliferation—including epiretinal membrane, choroidal ne­vus and melanoma, congenital hypertrophy of the RPE, morning glory syndrome, and other tumors.

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