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Ocular manifestations of Sturge–Weber syndrome: pathogenesis, diagnosis, and management

Authors Mantelli F, Bruscolini A, La Cava M, Abdolrahimzadeh S, Lambiase A

Received 6 December 2015

Accepted for publication 7 January 2016

Published 13 May 2016 Volume 2016:10 Pages 871—878

DOI https://doi.org/10.2147/OPTH.S101963

Checked for plagiarism Yes

Review by Single-blind

Peer reviewers approved by Dr Lucy Goodman

Peer reviewer comments 2

Editor who approved publication: Dr Scott Fraser


Flavio Mantelli,1 Alice Bruscolini,2 Maurizio La Cava,2 Solmaz Abdolrahimzadeh,2 Alessandro Lambiase2

1Department of Biology, College of Science and Technology, Temple University, Philadelphia, PA, USA; 2Department of Sense Organs, Section of Ophthalmology, University of Rome “Sapienza”, Rome, Italy

Abstract: Sturge–Weber syndrome has been included in the group of phakomatoses that is characterized by hamartomas involving the brain, skin, and eyes. The characteristic facial port-wine stain, involving the first branch of the trigeminal nerve and the embryonic vasculature distribution in this area, leads to several ocular complications of the anterior segment and can involve the eyelids and conjunctiva. The posterior segment of the eyes is also affected with diffuse choroidal hemangiomas. However, the most frequent ocular comorbidity is glaucoma with a prevalence rate ranging from 30%–70%. Glaucoma is related to anterior chamber malformations, high episcleral venous pressure (EVP), and changes in ocular hemodynamics. Glaucoma can be diagnosed at birth, but the disease can also develop during childhood and in adults. The management of glaucoma in Sturge–Weber syndrome patients is particularly challenging because of early onset, frequently associated severe visual field impairment at the time of diagnosis, and unresponsiveness to standard treatment. Several surgical approaches have been proposed, but long-term prognosis for both intraocular pressure control and visual function remains unsatisfactory in these patients. Choroidal hemangiomas may also lead to visual impairment thorough exudative retinal detachment and macular edema. Treatment of exudative hemangioma complications is aimed at destructing the tumor or decreasing tumor leakage.

Keywords:
Sturge–Weber syndrome, glaucoma, choroidal hemangiomas, port-wine stain, congenital disease, glaucoma surgery

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