Corkscrew retinal vessels in neurofibromatosis type 1: report of 12 cases

Muci-Mendoza, Rafael

doi:10.1136/bjo.86.3.282

Cited by 60 publications

(68 citation statements)

References 3 publications

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“…In 2002, Muci-Mendoza et al [7] described a novel retinal finding in NF1: distinctive microvascular abnormalities were noted in 12 of 32 (37.5%) patients. In 10 cases, the anomaly was very subtle, involving a second- or third-order venule, a tributary of the superior or inferior temporal veins, or, less frequently, the nasal veins.…”

Section: Discussionmentioning

confidence: 99%

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Retinal Microvascular Abnormalities in Neurofibromatosis Type 1 Associated with Congenital Retinal Macrovessels

Makino

Endoh

Tampo

2013

Case Reports in Ophthalmological Medicine

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Here, we report a case of retinal microvascular abnormalities in a patient with neurofibromatosis type 1 (NF1) associated with congenital retinal macrovessels. An abnormal retinal macrovessel, crossing the macula horizontally, was detected in the right eye. Additionally, retinal microvascular abnormalities were detected. Eight years after the initial visit, the retinal microvascular abnormalities were noted to have changed substantially. We speculate that retinal microvascular abnormalities in NF1 may change dynamically over the years.

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Section: Discussionmentioning

confidence: 99%

“…Few reports have described microvascular retinal abnormalities in patients with NF1. These typically present a corkscrew configuration [7–10]. …”

Section: Introductionmentioning

confidence: 99%

Retinal Microvascular Abnormalities in Neurofibromatosis Type 1 Associated with Congenital Retinal Macrovessels

Makino

Endoh

Tampo

2013

Case Reports in Ophthalmological Medicine

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“…[3], and a cerebral angiogram showed a string of beads abnormality of the proximal middle cerebral artery and anterior cerebral artery, consistent with FMD. A corkscrew appearance of the retinal vessels was reported in 12 of 32 patients (n=32) with neurofibromatosis type 1 [4]. To the best of our knowledge a similar appearance of the small intracranial vessels associated with other conditions has not been reported in the literature.…”

Section: Discussionmentioning

confidence: 88%

Corkscrew angiopathy of intracranial vessels in a young stroke patient: a case report

Alurkar¹,

Karanam²,

Oak³

2012

J Med Case Reports

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IntroductionWe present a rare finding of a ‘corkscrew appearance’ of the distal cerebral vessels in a young Asian woman who presented with acute stroke.Case presentationA 32-year-old Asian woman presented with a 3-month history of recurrent right-sided transient ischemic attacks. Her clinical workup and brain imaging results were normal. A digital subtraction angiogram revealed an abnormal corkscrew appearance of all intracranial distal vessels. She was discharged on a single antiplatelet drug. She had no further transient ischemic attacks on clinical follow-up. A digital subtraction angiogram performed 1 year later revealed no changes in the appearance of these vessels.ConclusionTo the best of our knowledge no similar previous reports exist in the literature. The present report describes a unique case of an unusual corkscrew appearance of the distal intracranial vessels. However, the underlying etiology in the present case remains unknown.

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“…Muci-Mendoza et al [6] reported 12 NF1 patients with corkscrew retinal vessels detected with color imaging and fluorescein angiography in 2002, but choroidal abnormalities were not studied in this cohort. Abdolrahimzadeh et al [5] described the presence of “spiral” or “corkscrew” vascular alterations overlying placoid choroidal nodules with color photographs, near infrared images, and enhanced depth imaging optical coherence tomography.…”

Section: Discussionmentioning

confidence: 90%

Optical Coherence Tomography Angiography of Retinal Microvascular Changes Overlying Choroidal Nodules in Neurofibromatosis Type 1

Cassiman

Casteels

Stalmans

et al. 2017

Case Rep Ophthalmol

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Purpose: To report 3 cases of neurofibromatosis type 1 (NF1) with choroidal nodules associated with retinal microvascular changes imaged with optical coherence tomography angiography (OCTA). Methods: Small case series in 3 NF1 patients. OCTA examinations were performed by a trained examiner (J.J.) after pupillary dilation. A standard scan, centered over the macula measuring 6 × 6 mm and 3 × 3 mm was obtained according to the findings on standard color photography. Additional scans were obtained in the zones with microvascular abnormalities. The segmentation provided by the machine software was used. Results: Corkscrew retinal vessels were observed in association with “placoid”-type choroidal nodules as shown by near-infrared reflectance imaging. In all cases, multiple lesions were found. They were second- or third-order tortuous vessels originating from the superior or inferior temporal veins. OCTA demonstrated that the tortuous venules were located in the superficial capillary plexus, and no abnormalities were found in the deep capillary plexus. Discussion: Corkscrew retinal vessels are part of a spectrum of retinal microvascular alterations seen in association, sometimes overlying choroidal nodules in patients with NF1 and are visualized in the superficial capillary plexus on OCTA. We demonstrated with OCTA that they are not associated with flow loss or ischemia in the superficial and deep capillary plexus. The link between the underlying nodule remains unclear. Since neovascularization was described in choroidal ganglioneuroma, we hypothesize that corresponding secretory substances from Schwann cells, ganglion cells, or melanocytes in choroidal nodules might alter the retinal vasculature. Conclusion: We report on 3 cases of NF1 with choroidal nodules in association with retinal microvascular changes imaged with OCTA. OCTA demonstrated preservation of the blood flow in the deep and superficial capillary plexus of the retina. We hypothesize that angiogenic factors secreted by the underlying choroidal nodules could have an effect on the retinal vasculature. Further immunohistological studies in NF1 patients with choroidal nodules to detect angiogenic factors (such as VEGF) are necessary to confirm this hypothesis.

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Corkscrew retinal vessels in neurofibromatosis type 1: report of 12 cases

Cited by 60 publications

References 3 publications

Retinal Microvascular Abnormalities in Neurofibromatosis Type 1 Associated with Congenital Retinal Macrovessels

Retinal Microvascular Abnormalities in Neurofibromatosis Type 1 Associated with Congenital Retinal Macrovessels

Corkscrew angiopathy of intracranial vessels in a young stroke patient: a case report

Optical Coherence Tomography Angiography of Retinal Microvascular Changes Overlying Choroidal Nodules in Neurofibromatosis Type 1

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