{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,9]],"date-time":"2026-09-09T14:43:21Z","timestamp":1788965001505,"version":"build-2803163510"},"reference-count":82,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2018,4,1]],"date-time":"2018-04-01T00:00:00Z","timestamp":1522540800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000053","name":"National Eye Institute","doi-asserted-by":"publisher","award":["K23EY022949"],"award-info":[{"award-number":["K23EY022949"]}],"id":[{"id":"10.13039\/100000053","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000053","name":"National Eye Institute","doi-asserted-by":"publisher","award":["K23EY022949 (T.S.V.)"],"award-info":[{"award-number":["K23EY022949 (T.S.V.)"]}],"id":[{"id":"10.13039\/100000053","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Neuroscience Research"],"published-print":{"date-parts":[[2019,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The phakomatoses, encephalotrigeminal angiomatosis (ETA; Sturge\u2010Weber Syndrome), neurofibromatosis type 1 (NF1 or von Recklinghausen disease), Von Hippel\u2010Lindau (VHL) disease, tuberous sclerosis (TSC), oculodermal melanocytosis (ODM), and phakomatosis pigmentovascularis are a group of neurocutaneous disorders that have characteristic systemic and ocular manifestations. Through many different mechanisms, they may cause glaucomatous damage of the optic nerve and subsequent vision loss varying from mild to severe. Glaucoma commonly affects patients with ETA (43\u201372%), orbito\u2010facial NF1 (23\u201350%), and ODM (10%). Rarely, it may present as neovascular glaucoma in VHL and TSC. In ETA, glaucoma typically occurs ipsilateral to the port\u2010wine stain, which is caused by a mutation in the <jats:italic>GNAQ<\/jats:italic> gene. Specifically, mechanical malformation of the anterior chamber angle and elevated episcleral venous pressure has been implicated as causes of glaucoma in ETA. In NF1, which is caused by a mutation in the <jats:italic>NF1<\/jats:italic> tumor suppressor gene, glaucoma commonly occurs ipsilateral to lid plexiform neurofibromas. Histological studies of eyes with NF1 have revealed direct anterior chamber infiltration by neurofibromas, secondary angle closure, fibrovascularization, and developmental angle abnormalities as mechanisms of glaucoma. Lastly, phakomatosis pigmentovascularis is a rare combination of ODM and port\u2010wine stain. Affected patients are at very high risk of developing glaucoma. Despite the many different mechanisms of glaucomatous damage, management follows similar principles as that for congenital glaucoma and primary open angle glaucoma. First\u2010line therapy is topical intraocular pressure\u2010lowering eye drops. Surgical management, including goniotomy, trabeculotomy, trabeculectomy, and tube shunt placement may be required for more severe cases.<\/jats:p>","DOI":"10.1002\/jnr.24241","type":"journal-article","created":{"date-parts":[[2018,4,2]],"date-time":"2018-04-02T06:19:55Z","timestamp":1522649995000},"page":"57-69","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":34,"title":["Pathophysiology and management of glaucoma associated with phakomatoses"],"prefix":"10.1002","volume":"97","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6545-3156","authenticated-orcid":false,"given":"Alisa T.","family":"Thavikulwat","sequence":"first","affiliation":[{"name":"Illinois Eye and Ear Infirmary, Department of Ophthalmology and Visual Sciences University of Illinois at Chicago Chicago Illinois"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deepak P.","family":"Edward","sequence":"additional","affiliation":[{"name":"Illinois Eye and Ear Infirmary, Department of Ophthalmology and Visual Sciences University of Illinois at Chicago Chicago Illinois"},{"name":"King Khaled Eye Specialist Hospital Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abdulrahman","family":"AlDarrab","sequence":"additional","affiliation":[{"name":"King Khaled Eye Specialist Hospital Riyadh Saudi Arabia"},{"name":"Department of Surgery, College of Medicine Prince Sattam Bin Abdulaziz University Alkharj Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thasarat S.","family":"Vajaranant","sequence":"additional","affiliation":[{"name":"Illinois Eye and Ear Infirmary, Department of Ophthalmology and Visual Sciences University of Illinois at Chicago Chicago Illinois"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,4]]},"reference":[{"issue":"4","key":"e_1_2_13_2_1","first-page":"336","article-title":"Iris neovascularization and neovascular glaucoma in neurofibromatosis type 1: Report of 3 cases in children","volume":"22","author":"Al Freihi S. 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