Abstract
Combined hamartoma of retina and retinal pigment epithelium (CHRRPE) is a rare intraocular tumor of the posterior pole associated with multiple genetic syndromes. We report a late-presenting unilateral CHRRPE in a 58-year-old male with complains of gradual, painless, and progressive diminution of vision. Optical coherence tomography showed altered retinal architecture in the involved area. Furthermore, evaluation revealed vascular telangiectasia with abnormal ocular fluorescence on fundus fluorescein angiography. CHRRPE may lead to formation of epiretinal membranes, holes, and neovascular membranes in the retina. Therefore, early diagnosis and prompt management is essential. Through this case, we would like to emphasize the need of understanding the pathogenesis of CHRRPE and whether these isolated ocular lesions can be a diagnostic sign of associated genetic syndromes.
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