Introduction:
Retinal astrocytic hamartoma (RAH) is a benign glial tumor that may be present in patients with Tuberous Sclerosis (TS)1, a genetic phakomatosis caused by the mutation of the tumor suppressor genes TSC1 or TSC22,3. To diagnose TS, two major or one major and two minor criteria are necessary, with RAH being a major criteria4,5.
Hamartomas identified through indirect ophthalmoscopy are big enough to change vessels and optic disc anatomy, but RAH not diagnosed in previous fundoscopies may appear in optical coherence tomography (OCT). Using OCT, the prevalence of RAH was identified in 80% of patients with TS4. This highlights the clinical relevance of a non-invasive diagnostic method of subclinical lesions and clinical characterization of patients with TS4.
The purpose of this report is to describe and characterize retinal hamartomas at different stages of evolution with OCT with Sweep Source technology (OCT-SS) of a patient with TS. It was observed that hamartomas initially compromise the inner retina layers with progression to the outer layers as they grow and calcify. More descriptive studies of OCT aspects are needed to better classify retinal hamartomas, due to their high prevalence in patients with TS.