Retinal hamartomas respond to everolimus treatment for tuberous sclerosis: A photo essay

Abstract

Background: Tuberous sclerosis is characterized by hamartomas in multiple organs including retinal hamartomas. Everolimus is a novel treatment for tuberous sclerosisrelated lesions. We present a case where everolimus led to lesion shrinkage, the skin tuberomas, as well as the retinal hamartomas, indicating that its effect can be detected, measured, and monitored with an ocular examination. Case Report: We describe a 24-year-old female diagnosed with tuberous sclerosis since birth, with multiorgan involvement. The patients had multiorgan involvement, with angiolipomas of the kidney resistant to treatment. She also underwent subependymal giant cell astrocytoma brain tumor resection. The patient was treated with everolimus after recurrent embolization failed to shrink the renal angiolipomas. The tumors responded well to treatment. Conclusions: Skin lesions disappeared, and fundus photos and repeat retinal optical coherence tomography measurements documented shrinkage of the retinal hamartomas during the 24 months of treatment. We conclude that a simple eye examination can monitor treatment effectiveness.