A rare case of visual loss due to serous detachment associated with retinal “mulberry” hamartoma in a case of tuberous sclerosis

Abstract

Tuberous sclerosis or tuberous sclerosis complex (TSC) is a rare multisystem genetic disease that causes nonmalignant tumors to grow in the brain and on other vital organs such as the kidneys, heart, eyes, lungs, and skin. A combination of symptoms may include seizures, developmental delay, behavioral problems, skin abnormalities, lung, and kidney disease. Ocular involvement commonly occurs in tuberous sclerosis though visual loss is rare. Retinal lesions called astrocytic hamartomas (or “phakomas”), appear as a smooth surface or nodular grayish or yellowish–white lesion in the back of the globe on the ophthalmic examination. Astrocytic hamartomas can calcify. Nonretinal lesions associated with TSC include coloboma, angiofibromas of the eyelids, and papilledema.