J Korean Ophthalmol Soc.  2021 Jun;62(6):862-866. 10.3341/jkos.2021.62.6.862.

Regressed Retinal Astrocytic Hamartomas in Tuberous Sclerosis by Mammalian Target of Rapamycin Inhibitor (Everolimus) Treatment

• Kim H
• Park Sh

• KMID: 2516816
• DOI: http://doi.org/10.3341/jkos.2021.62.6.862

Abstract

Purpose
We report a case of regressed retinal astrocytic hamartomas (RAHs) in tuberous sclerosis complex (TSC) patients by mammalian target of rapamycin inhibitor (everolimus) treatment.
Case summary
A 12-year-old girl diagnosed with TSC visited for regular checkups. The patient had undergone regular fundus examinations every year after the finding of multiple RAHs in both eyes in the initial screening at 3 months of age. There was no change in the size or thickness of the lesions until she reached 10 years of age. Two months later, the patient started systemic everolimus (5 mg, AFINITOR^®, Novartis, Basel, Switzerland) treatment for 17 months under the care of a pediatric neurologist for seizure control. Subsequent fundus examination and measurements by optical coherence tomography showed improvement in the maximal thickness of all lesions, specifically, a reduction of 25%.
Conclusions
mTOR inhibitors are targeted agents that regress systemic hamartomas and control convulsions without serious side effects in TSC patients. The particular one used in this study, Afinitor everolimus, reduced the RAH size in our patient. Thus, in cases where an RAH affects vision due to its location, everolimus can considered as a therapeutic option.

Keyword

Everolimus; Retinal astrocytic hamartoma; Tuberous sclerosis