Everolimus is an inhibitor of the mammalian target of rapamycin (mTOR) that has been
approved by the US Food and Drug Administration for the treatment of subependymal
giant cell astrocytoma (SEGA) in patients with tuberous sclerosis complex (TSC). Retinal
hamartomas, which are one of the major diagnostic features of TSC, tend to remain
stable or gradually progress in the natural history of the disease. We report 2 patients
with TSC treated with everolimus for SEGA in whom fundus photographs and spectral
domain optical coherence tomography demonstrated regression of previously documented
multiple retinal hamartomas in all 4 eyes.
To read this article in full you will need to make a payment
Purchase one-time access:
Academic and PersonalCorporate R&D ProfessionalsOne-time access price info
- For academic or personal research use, select 'Academic and Personal'
- For corporate R&D use, select 'Corporate R&D Professionals'
Subscribe:
Subscribe to Journal of American Association for Pediatric Ophthalmology and Strabismus {JAAPOS}Already a print subscriber? Claim online access
Already an online subscriber? Sign in
Register: Create an account
Institutional Access: Sign in to ScienceDirect
References
- Tuberous sclerosis complex: diagnostic challenges, presenting symptoms, and commonly missed signs.Pediatrics. 2011; 127: e117-e125
- Efficacy and safety of everolimus for subependymal giant cell astrocytomas associated with tuberous sclerosis complex (EXIST-1): a multicentre, randomised, placebo-controlled phase 3 trial.Lancet. 2013; 381: 125-132
- Everolimus for subependymal giant cell astrocytoma: 5-year final analysis.Ann Neurol. 2015; 78: 929-938
- Everolimus for angiomyolipoma associated with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis (EXIST-2): a multicentre, randomised, double-blind, placebo-controlled trial.Lancet. 2013; 381: 817-824
- Rapamycin has a beneficial effect on controlling epilepsy in children with tuberous sclerosis complex: results of 7 children from a cohort of 86.Childs Nerve Syst. 2014; 30: 227-240
- Everolimus to treat aggressive retinal astrocytic hamartoma in tuberous sclerosis complex.JAAPOS. 2017; 21: 328-331
- Optical coherence tomography of retinal astrocytic hamartoma in 15 cases.Ophthalmology. 2006; 113: 1553-1557
- An update on the ophthalmologic features in the phakomatoses.J Ophthalmol. 2016; 2016: 3043026
- Long-term observation of retinal lesions in tuberous sclerosis.Am J Ophthalmol. 1995; 119: 318-324
- Spontaneous regression of retinal astrocytic hamartoma in a patient with tuberous sclerosis.Am J Ophthalmol. 2002; 133: 715-716
- Sirolimus for retinal astrocytic hamartoma associated with tuberous sclerosis complex.Ophthalmology. 2015; 122: 1947-1949
Article Info
Publication History
Published online: December 19, 2017
Accepted:
August 14,
2017
Received:
May 31,
2017
Identification
Copyright
© 2017 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved.
