Neurofibromatosis Type 1 Vasculopathy Presenting as Branch Retinal Vein Occlusion: Case Report and Review of the Literature

Systemic vascular occlusive disease associated with neurofibromatosis type 1 (NF1) has been reported in the aortic, cerebral, renal, celiac, and mesenteric vessels and is referred to as NF1 vasculopathy. Although retinal vascular involvement in patients with NF1 usually manifests as retinal capillar...

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Vydané v:Turk oftalmoloji gazetesi Ročník 53; číslo 6; s. 390 - 394
Hlavní autori: Zeydanli, Ece Ozdemir, Ozdek, Sengul
Médium: Journal Article
Jazyk:English
Vydavateľské údaje: Turkey Galenos Yayinevi Tic. Ltd 21.12.2023
Galenos Publishing House
Turkish Ophthalmology Society
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ISSN:1300-0659, 2149-8709, 2147-2661, 2149-8709
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Abstract Systemic vascular occlusive disease associated with neurofibromatosis type 1 (NF1) has been reported in the aortic, cerebral, renal, celiac, and mesenteric vessels and is referred to as NF1 vasculopathy. Although retinal vascular involvement in patients with NF1 usually manifests as retinal capillary hemangiomatosis, a few cases of NF1 with retinal vascular occlusive disease have also been described. Here, we report a 2-year-old girl with NF1 who presented with branch retinal vein occlusion and peripheral retinal ischemia secondary to NF1. This case demonstrates that NF1-related retinal occlusive vasculopathy may occur in very young patients and that detailed fundus examination with fluorescein angiography is necessary in all patients with NF1.
AbstractList Systemic vascular occlusive disease associated with neurofibromatosis type 1 (NF1) has been reported in the aortic, cerebral, renal, celiac, and mesenteric vessels and is referred to as NF1 vasculopathy. Although retinal vascular involvement in patients with NF1 usually manifests as retinal capillary hemangiomatosis, a few cases of NF1 with retinal vascular occlusive disease have also been described. Here, we report a 2-year-old girl with NF1 who presented with branch retinal vein occlusion and peripheral retinal ischemia secondary to NF1. This case demonstrates that NF1-related retinal occlusive vasculopathy may occur in very young patients and that detailed fundus examination with fluorescein angiography is necessary in all patients with NF1. Keywords: Neurofibromatosis type 1, NF1 vasculopathy, occlusive vascular disease, branch retinal vein occlusion
Systemic vascular occlusive disease associated with neurofibromatosis type 1 (NF1) has been reported in the aortic, cerebral, renal, celiac, and mesenteric vessels and is referred to as NF1 vasculopathy. Although retinal vascular involvement in patients with NF1 usually manifests as retinal capillary hemangiomatosis, a few cases of NF1 with retinal vascular occlusive disease have also been described. Here, we report a 2-year-old girl with NF1 who presented with branch retinal vein occlusion and peripheral retinal ischemia secondary to NF1. This case demonstrates that NF1- related retinal occlusive vasculopathy may occur in very young patients and that detailed fundus examination with fluorescein angiography is necessary in all patients with NF1.
Systemic vascular occlusive disease associated with neurofibromatosis type 1 (NF1) has been reported in the aortic, cerebral, renal, celiac, and mesenteric vessels and is referred to as NF1 vasculopathy. Although retinal vascular involvement in patients with NF1 usually manifests as retinal capillary hemangiomatosis, a few cases of NF1 with retinal vascular occlusive disease have also been described. Here, we report a 2-year-old girl with NF1 who presented with branch retinal vein occlusion and peripheral retinal ischemia secondary to NF1. This case demonstrates that NF1-related retinal occlusive vasculopathy may occur in very young patients and that detailed fundus examination with fluorescein angiography is necessary in all patients with NF1.Systemic vascular occlusive disease associated with neurofibromatosis type 1 (NF1) has been reported in the aortic, cerebral, renal, celiac, and mesenteric vessels and is referred to as NF1 vasculopathy. Although retinal vascular involvement in patients with NF1 usually manifests as retinal capillary hemangiomatosis, a few cases of NF1 with retinal vascular occlusive disease have also been described. Here, we report a 2-year-old girl with NF1 who presented with branch retinal vein occlusion and peripheral retinal ischemia secondary to NF1. This case demonstrates that NF1-related retinal occlusive vasculopathy may occur in very young patients and that detailed fundus examination with fluorescein angiography is necessary in all patients with NF1.
Audience Academic
Author Özdemir Zeydanlı, Ece
Özdek, Şengül
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Keywords branch retinal vein occlusion
occlusive vascular disease
Neurofibromatosis type 1
NF1 vasculopathy
Language English
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SubjectTerms Angiography
Brain cancer
branch retinal vein occlusion
Case reports
Child, Preschool
Diagnosis
Disease
Female
Fluorescein Angiography
Genetic disorders
Glioma
Hemangioma
Humans
Ischemia
Membranes
Neurofibromatosis
Neurofibromatosis 1 - complications
Neurofibromatosis 1 - diagnosis
neurofibromatosis type 1
nf1 vasculopathy
occlusive vascular disease
Pathogenesis
Pathology
Patients
Retina
Retinal diseases
Retinal Diseases - complications
Retinal Vein Occlusion - complications
Retinal Vein Occlusion - etiology
Silicones
Smooth muscle
Surgery
Tumors
Vascular occlusion
Veins & arteries
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Title Neurofibromatosis Type 1 Vasculopathy Presenting as Branch Retinal Vein Occlusion: Case Report and Review of the Literature
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