Retinal Vasoproliferative Tumors in 6 Patients With Neurofibromatosis Type 1

Shields, Jerry A.; Pellegrini, Marco; Kaliki, Swathi; Mashayekhi, Arman; Shields, Carol L.

doi:10.1001/jamaophthalmol.2013.6281

Cited by 33 publications

(19 citation statements)

References 47 publications

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“…In NF1, a few cases of neovascular glaucoma driven by vascular endothelial growth factor (VEGF) have been described in the literature (Al Freihi, Edward, Nowilaty, Abouammoh, & Morales, ; Pichi et al, ). A variety of posterior segment vascular abnormalities and tumors, including retinal ischemia, vasoproliferative tumors, hamartomas, hemangiomas, and the neurofibromas themselves, may serve as stimuli for VEGF production in NF1 (Al Freihi et al, ; Destro, ; Kotsuji‐Maruyama, Imakado, Kawachi, & Otsuka, ; Shields, Pellegrini, Kaliki, Mashayekhi, & Shields, ).…”

Section: Neurofibromatosis Type 1 (Von Recklinghausen Disease)mentioning

confidence: 99%

“…(b) The angle at high magnification showing anteriorly displaced ciliary processes (arrow) secondary to neurofibroma infiltration resulting in a pseudo-anterior chamber angle (arrowhead). (PAS; original magnification 310) of posterior segment vascular abnormalities and tumors, including retinal ischemia, vasoproliferative tumors, hamartomas, hemangiomas, and the neurofibromas themselves, may serve as stimuli for VEGF production in NF1 (AlFreihi et al, 2013;Destro, 1991;Kotsuji-Maruyama, Imakado, Kawachi, & Otsuka, 2002;Shields, Pellegrini, Kaliki, Mashayekhi, & Shields, 2014).…”

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confidence: 99%

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Pathophysiology and management of glaucoma associated with phakomatoses

Thavikulwat

Edward

AlDarrab

et al. 2018

J of Neuroscience Research

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The phakomatoses, encephalotrigeminal angiomatosis (ETA; Sturge-Weber Syndrome), neurofibromatosis type 1 (NF1 or von Recklinghausen disease), Von Hippel-Lindau (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 (43-72%), orbito-facial NF1 (23-50%), and ODM (10%). Rarely, it may present as neovascular glaucoma in VHL and TSC. In ETA, glaucoma typically occurs ipsilateral to the port-wine stain, which is caused by a mutation in the GNAQ 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 NF1 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-wine 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-line therapy is topical intraocular pressure-lowering eye drops. Surgical management, including goniotomy, trabeculotomy, trabeculectomy, and tube shunt placement may be required for more severe cases.

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Section: Neurofibromatosis Type 1 (Von Recklinghausen Disease)mentioning

confidence: 99%

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confidence: 99%

Pathophysiology and management of glaucoma associated with phakomatoses

Thavikulwat

Edward

AlDarrab

et al. 2018

J of Neuroscience Research

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“…3) офтальмоскопия -новообразования между экватором и зубчатой линией, субретинальная экссудация; эпиретинальная мембрана; кровоизлияние в сетчатку, стекловидное тело, неоваскуляризация сетчатки, цистоидный макулярный отек [36].…”

Section: Ch I Ld Neurology R U S S I a N J O U R N A L O Funclassified

Modern Technologies in the Diagnosis of the Vision Organ Pathology in Patients With Neurofibromatosis Type I (Review of Literature)

Ольшанская¹,

Shnaider²,

Дмитренко³

et al. 2016

Rus. ž. det. nevrol.

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“…One of the rare ocular complications of NF-1 is a retinal vasoproliferative tumor. A retinal vasoproliferative tumor is an uncommon lesion composed of glial cells and a fine capillary network [ 2 ], [ 3 ]. For the first time in 1983, Shields et al reported 12 cases of a retinal vascular mass with distinct clinical features which had not been clearly defined previously [ 4 ].…”

Section: Introductionmentioning

confidence: 99%