Purpose: To describe the clinical course and outcomes of aggressive retinal astrocytic hamartoma (RAH) treated with oral mechanistic target of rapamycin inhibitors (mTORis).
Design: A retrospective clinical case series.
Participants: Five patients with genetically confirmed tuberous sclerosis complex and visually significant RAH due to tumor growth or exudation.
Methods: In this retrospective clinical case series, a review of electronic medical records was performed to determine baseline and follow-up ophthalmic examination characteristics, along with ancillary imaging findings, in patients receiving off-label treatment with either oral sirolimus or everolimus for symptomatic RAH.
Main outcome measures: Visual acuity, change in tumor size, degree of exudation, and adverse effects of the mTORis were evaluated.
Results: The 5 patients in this series ranged in age from 8 months to 54 years. Four were treated with sirolimus, and 1 received everolimus. In all the cases, the tumor height was stable or decreased after the treatment (median follow-up duration, 39 months; range, 11-73 months). Exudation improved after the treatment in all the cases. In an 8-month-old infant, frequent upper respiratory tract infections prompted the cessation of treatment. In 1 patient, the mTORi was temporarily withheld because of elevated liver enzyme levels. No other significant adverse effects were noted.
Conclusions: Sirolimus and everolimus should be considered in the management of vision-threatening RAH, particularly in the setting of exudative and rapidly growing tumors. Four of the 5 patients in this series tolerated the oral mTORi and continued with the therapy. There were no serious complications.
Keywords: Everolimus; Retinal astrocytic hamartoma; Sirolimus; Tuberous sclerosis complex; mTOR inhibitor.
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