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

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

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&am...

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Autores principales: Mantelli F, Bruscolini A, La Cava M, Abdolrahimzadeh S, Lambiase A
Formato: article
Lenguaje:EN
Publicado: Dove Medical Press 2016
Materias:
glaucoma
Sturge Weber syndrome
phakomatoses
rare diesease
hamartoma
hemangioma
Ophthalmology
RE1-994
Acceso en línea:https://doaj.org/article/9356c5cf42bd4994a03dd3e3f261f201
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spelling oai:doaj.org-article:9356c5cf42bd4994a03dd3e3f261f2012021-12-02T04:59:05ZOcular manifestations of Sturge–Weber syndrome: pathogenesis, diagnosis, and management1177-5483https://doaj.org/article/9356c5cf42bd4994a03dd3e3f261f2012016-05-01T00:00:00Zhttps://www.dovepress.com/ocular-manifestations-of-sturgendashweber-syndrome-pathogenesis-diagno-peer-reviewed-article-OPTHhttps://doaj.org/toc/1177-5483Flavio 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 surgeryMantelli FBruscolini ALa Cava MAbdolrahimzadeh SLambiase ADove Medical PressarticleglaucomaSturge Weber syndromephakomatosesrare dieseasehamartomahemangiomaOphthalmologyRE1-994ENClinical Ophthalmology, Vol 2016, Iss Issue 1, Pp 871-878 (2016)
institution DOAJ
collection DOAJ
language EN
topic glaucoma
Sturge Weber syndrome
phakomatoses
rare diesease
hamartoma
hemangioma
Ophthalmology
RE1-994
spellingShingle glaucoma
Sturge Weber syndrome
phakomatoses
rare diesease
hamartoma
hemangioma
Ophthalmology
RE1-994
Mantelli F
Bruscolini A
La Cava M
Abdolrahimzadeh S
Lambiase A
Ocular manifestations of Sturge–Weber syndrome: pathogenesis, diagnosis, and management
description 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
format article
author Mantelli F
Bruscolini A
La Cava M
Abdolrahimzadeh S
Lambiase A
author_facet Mantelli F
Bruscolini A
La Cava M
Abdolrahimzadeh S
Lambiase A
author_sort Mantelli F
title Ocular manifestations of Sturge–Weber syndrome: pathogenesis, diagnosis, and management
title_short Ocular manifestations of Sturge–Weber syndrome: pathogenesis, diagnosis, and management
title_full Ocular manifestations of Sturge–Weber syndrome: pathogenesis, diagnosis, and management
title_fullStr Ocular manifestations of Sturge–Weber syndrome: pathogenesis, diagnosis, and management
title_full_unstemmed Ocular manifestations of Sturge–Weber syndrome: pathogenesis, diagnosis, and management
title_sort ocular manifestations of sturge–weber syndrome: pathogenesis, diagnosis, and management
publisher Dove Medical Press
publishDate 2016
url https://doaj.org/article/9356c5cf42bd4994a03dd3e3f261f201
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AT lacavam ocularmanifestationsofsturgendashwebersyndromepathogenesisdiagnosisandmanagement
AT abdolrahimzadehs ocularmanifestationsofsturgendashwebersyndromepathogenesisdiagnosisandmanagement
AT lambiasea ocularmanifestationsofsturgendashwebersyndromepathogenesisdiagnosisandmanagement
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