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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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