Retinal Hamartomas in a case of Tuberous Sclerosis

ABSTRACT

A 21-year-old male patient suffering from epilepsy came for fundoscopic evaluation. Right eye showed a ?at, smooth surfaced well circumscribed, non-calci?ed translucent lesion of 1 disc dioptre size, inferior to the optic disc, obscuring underlying vessels & an opaque, calci?ed, yellow white lesion having irregular surface & margins with mulberry appearance, elevated, supero-nasal to the disc, obscuring the underlying vessels. Adenoma sebaceum, periungual ?bromas, Ash leaf macules were seen on general physical examination suggestive of tuberous sclerosis. MRI brain revealed subependymal nodules & subcortical tubers. OCT showed an optically hyper re?ective mass with retinal disorganization and moth-eaten spaces. 2D echo showed mild Left Ventricular Hypertrophy, diastolic dysfunction, trivial mitral and tricuspid regurgitation. Ultrasonography of abdomen & pelvis showed fatty liver and renal angiomyolipoma. It was interesting to note cardiac & hepatic involvement in addition to the standard tuberous sclerosis complex (TSC) major & minor diagnostic criteria