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.