Ocular Manifestations of the Sturge–Weber Syndrome
Abstract Sturge–Weber syndrome (SWS) or encephalotrigeminal angiomatosis is a non-inherited congenital disorder characterized by neurologic, skin, and ocular abnormalities. A somatic activating mutation (R183Q) in the GNAQ gene during early embryogenesis has been recently recognized as the etiology...
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| Format: | Article |
| Language: | English |
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Knowledge E
2021-07-01
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| Series: | Journal of Ophthalmic & Vision Research |
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| Online Access: | https://doi.org/10.18502/jovr.v16i3.9438 |
| _version_ | 1811193857764753408 |
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| author | Kiana Hassanpour Ramin Nourinia Ebrahim Gerami Ghavam Mahmoudi Hamed Esfandiari |
| author_facet | Kiana Hassanpour Ramin Nourinia Ebrahim Gerami Ghavam Mahmoudi Hamed Esfandiari |
| author_sort | Kiana Hassanpour |
| collection | DOAJ |
| description | Abstract Sturge–Weber syndrome (SWS) or encephalotrigeminal angiomatosis is a non-inherited congenital disorder characterized by neurologic, skin, and ocular abnormalities. A somatic activating mutation (R183Q) in the GNAQ gene during early embryogenesis has been recently recognized as the etiology of vascular abnormalities in SWS. Approximately, half of the patients with SWS manifest ocular involvement including glaucoma as the most common ocular abnormality followed by choroidal hemangioma (CH). The underlying pathophysiology of glaucoma in SWS has not been completely understood yet. Early onset glaucoma comprising 60% of SWS glaucoma have lower success rates after medical and surgical treatments compared with primary congenital glaucoma. Primary angle surgery is associated with modest success in the early onset SWS glaucoma while the success rate significantly decreases in late onset glaucoma. Filtration surgery is associated with a higher risk of intraoperative and postoperative choroidal effusion and suprachoroidal hemorrhage. CH is reported in 40–50% of SWS patients. The goal of treatment in patients with CH is to induce involution of the hemangioma, with reduction of subretinal and intraretinal fluid and minimal damage to the neurosensory retina. The decision for treating diffuse CHs highly depends on the patient's visual acuity, the need for glaucoma surgery, the presence of subretinal fluid (SRF), its chronicity, and the potential for visual recovery. |
| first_indexed | 2024-04-12T00:16:26Z |
| format | Article |
| id | doaj.art-f2d73dcf94a9455aa1ed5960aaeb440a |
| institution | Directory Open Access Journal |
| issn | 2008-2010 2008-322X |
| language | English |
| last_indexed | 2024-04-12T00:16:26Z |
| publishDate | 2021-07-01 |
| publisher | Knowledge E |
| record_format | Article |
| series | Journal of Ophthalmic & Vision Research |
| spelling | doaj.art-f2d73dcf94a9455aa1ed5960aaeb440a2022-12-22T03:55:49ZengKnowledge EJournal of Ophthalmic & Vision Research2008-20102008-322X2021-07-0116341543110.18502/jovr.v16i3.9438jovr.v16i3.9438Ocular Manifestations of the Sturge–Weber SyndromeKiana Hassanpour0Ramin Nourinia1Ebrahim Gerami2Ghavam Mahmoudi3Hamed Esfandiari4 Ophthalmic Research Center, Research Institute for Ophthalmology and Vision Science, Shahid Beheshti University of Medical Sciences, Tehran, Iran Ophthalmic Research Center, Research Institute for Ophthalmology and Vision Science, Shahid Beheshti University of Medical Sciences, Tehran, Iran Ophthalmic Research Center, Research Institute for Ophthalmology and Vision Science, Shahid Beheshti University of Medical Sciences, Tehran, Iran Ophthalmic Research Center, Research Institute for Ophthalmology and Vision Science, Shahid Beheshti University of Medical Sciences, Tehran, Iran Department of Ophthalmology, Northwestern University Feinberg School of Medicine, Chicago, IL, USAAbstract Sturge–Weber syndrome (SWS) or encephalotrigeminal angiomatosis is a non-inherited congenital disorder characterized by neurologic, skin, and ocular abnormalities. A somatic activating mutation (R183Q) in the GNAQ gene during early embryogenesis has been recently recognized as the etiology of vascular abnormalities in SWS. Approximately, half of the patients with SWS manifest ocular involvement including glaucoma as the most common ocular abnormality followed by choroidal hemangioma (CH). The underlying pathophysiology of glaucoma in SWS has not been completely understood yet. Early onset glaucoma comprising 60% of SWS glaucoma have lower success rates after medical and surgical treatments compared with primary congenital glaucoma. Primary angle surgery is associated with modest success in the early onset SWS glaucoma while the success rate significantly decreases in late onset glaucoma. Filtration surgery is associated with a higher risk of intraoperative and postoperative choroidal effusion and suprachoroidal hemorrhage. CH is reported in 40–50% of SWS patients. The goal of treatment in patients with CH is to induce involution of the hemangioma, with reduction of subretinal and intraretinal fluid and minimal damage to the neurosensory retina. The decision for treating diffuse CHs highly depends on the patient's visual acuity, the need for glaucoma surgery, the presence of subretinal fluid (SRF), its chronicity, and the potential for visual recovery.https://doi.org/10.18502/jovr.v16i3.9438choroidal hemangiomaglaucomaocular manifestationssturge-weber syndrome |
| spellingShingle | Kiana Hassanpour Ramin Nourinia Ebrahim Gerami Ghavam Mahmoudi Hamed Esfandiari Ocular Manifestations of the Sturge–Weber Syndrome Journal of Ophthalmic & Vision Research choroidal hemangioma glaucoma ocular manifestations sturge-weber syndrome |
| title | Ocular Manifestations of the Sturge–Weber Syndrome |
| title_full | Ocular Manifestations of the Sturge–Weber Syndrome |
| title_fullStr | Ocular Manifestations of the Sturge–Weber Syndrome |
| title_full_unstemmed | Ocular Manifestations of the Sturge–Weber Syndrome |
| title_short | Ocular Manifestations of the Sturge–Weber Syndrome |
| title_sort | ocular manifestations of the sturge weber syndrome |
| topic | choroidal hemangioma glaucoma ocular manifestations sturge-weber syndrome |
| url | https://doi.org/10.18502/jovr.v16i3.9438 |
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