mTOR Inhibitor Causes Regression of Retinal Hamartomas in Patients with Tuberosclerosis

Tuberous sclerosis (TS) is a systemic disorder characterized by hamartomas in multiple organs (1), among those the retina. The mutations underlying TS are TSC1 or TSC2, resulting in activation of mTOR which promotes cell proliferation (1). Everolimus, mTOR inhibitor, is a new treatment for TS-related lesions, indicated for the treatment of subependymal giant cell astrocytomas (SEGA) in the brain and renal angiomyolipomas (2). Here we present regress in the size of the retinal hamartomas in a TS patient following systemic treatment with Everolimus.