@article {1629456,
	title = {Treatment of Aggressive Retinal Astrocytic Hamartoma with Oral Mechanistic Target of Rapamycin Inhibition},
	journal = {Ophthalmol Retina},
	volume = {6},
	number = {5},
	year = {2022},
	month = {2022 May},
	pages = {411-420},
	abstract = {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, Hamartoma, Humans, Infant, Retinal Diseases, Retrospective Studies, Sirolimus},
	issn = {2468-6530},
	doi = {10.1016/j.oret.2022.01.003},
	author = {Wu, Frances and McGarrey, Mark P and Geenen, Kennedy R and Skalet, Alison H and Guillot, Florian H and Wilson, Jenny L and Shah, Ankoor S and Gonzalez, Efren and Thiele, Elizabeth A and Kim, Ivana K and Aronow, Mary E}
}
