Ultrawide Field Imaging of Progressive Retinal Arteriovenous Malformation in a Pediatric Patient with Wyburn-Mason Syndrome.

Wyburn-Mason syndrome (WMS) is a rare congenital disease that presents with unilateral arteriovenous malformation (AVM) in the visual pathway, midbrain, and/or skin. We report a case of a 5-year-old girl with a history of cerebral and orbital AVM who presented with left exotropia and was found to have group 3 retinal AVM consistent with WMS. Here, we use ultrawide field imaging to show the progression of retinal AVM and peripheral nonperfusion areas for a period of 1 year in a pediatric patient with WMS. [Ophthalmic Surg Lasers Imaging Retina. 2022;53:46-48.].

Unilateral Situs Inversus of the Optic Disc in a Patient With Retinal Arteriolar Tortuosity.

Familial retinal arteriolar tortuosity (fRAT) is a rare autosomal dominant disorder that is characterized by tortuosity of the second- and third-order arterioles around the posterior pole of retina. Most cases with fRAT lack associated systemic vascular abnormality. Situs inversus, a congenital anomaly, features emergence of retinal vessels from the optic nerve head in a nasal direction, usually occurs bilaterally. In this case report, the authors describe a unique case of fRAT with unilateral situs inversus. [Ophthalmic Surg Lasers Imaging Retina. 2020;51:533-535.].

Retinal Arteriovenous Malformation Occlusion and Optic Nerve Drusen: Casuality or Causality?

Multimodal imaging of an impending retinal vein occlusion in an arteriovenous malformation associated with optic nerve drusen (OND) in a 16-year-old girl affected by Wyburn-Mason Syndrome. The authors seek to determine whether the association between the two entities has had an additive role in the acute retinal vascular event. [Ophthalmic Surg Lasers Imaging Retina. 2020;51:418-419.].

Detection of Occult Arteriovenous Malformation With Annular Array Ultrasonography.

Retinal vascular tortuosity may occur in a wide range of ocular disorders. When retinal vascular tortuosity involves both arteries and veins, and presents unilaterally and without hemorrhage, a diagnosis of Wyburn Mason syndrome (WMS) should be considered due to the potential morbidity and mortality associated with cerebral involvement. Magnetic resonance imaging (MRI) and MRI angiography (MRA) are important tools for identifying cerebral arteriovenous malformations (AVMs), but these imaging modalities have limited spatial resolution to detect very small vascular lesions. Annular array contact ocular ultrasound is a new imaging modality capable of detecting small intraorbital AVMs. [Ophthalmic Surg Lasers Imaging Retina. 2020;51:239-243.].

Dilated and tortuous retinal vessels as a sign of Cantu syndrome.

When encountering patients with markedly dilated and tortuous retinal vessels, Wyburn-Mason syndrome (WMS) or racemous angiomatosis (phacomatosis) is commonly thought of as the archetypal entity that can produce these findings. We describe a patient with Cantu syndrome with phenotypical findings identical to those seen in patients with WMS and want to highlight this as another entity that can present with tortuous and dilated retinal vessels.

Perifoveal Exudative Vascular Anomalous Complex-Like Lesion as a Complication of Prepapillary Arterial Loops.

Perifoveal exudative vascular anomalous complex (PEVAC) and its expanded spectrum have been recently elucidated by multimodal imaging. Although there is some clarity about its characteristic features and natural history, the cause remains unknown. Herein, the authors describe a hitherto unknown association with prepapillary arterial loops and suggest a possible hypothesis for the development of a PEVAC-like lesion and its response to treatment with thermal laser. [Ophthalmic Surg Lasers Imaging Retina. 2018;49:974-978.].

Corkscrew retinal vessels and retinal arterial macroaneurysm in a patient with neurofibromatosis type 1: A case report.

RATIONALE: Neurofibromatosis type I (NF-1) is a multisystem autosomal dominant disease characterized by pigmentation and the growth of tumors along nerves in the skin, brain, and other parts of the body. It is caused by a mutation in the NF-1 tumor suppressor gene. NF-1 vascular disease is an important complication of the disease. PATIENT CONCERNS: The study reports a unique case of a patient with NF-1 with 2 simultaneous vascular abnormalities, involving tiny spiral venous changes (corkscrew retinal vessels) and retinal arterial macroaneurysms. Our patient was diagnosed with NF-1 as she met the following National Institutes of Health consensus criteria for the diagnosis of NF-1: more than 6 cafe au lait macules, of a maximum diameter ≥15mm, 2 neurofibromas within the dermis, and Lisch nodules on the iris. DIAGNOSES: Retinal arterial macroaneurysm in the left eye, corkscrew retinal vessels related to NF-1 and Neurofibromatosis type I. INTERVENTIONS: Due to the possibility of automatic involution of macroaneurysms, recovery may not affect vision (4). A cardiologist advised the patient to take nifedipine tablets (30mg/d) to treat her high blood pressure while continuing observation of the macroaneurysms. OUTCOMES: Preretinal, intraretinal, and subretinal hemorrhage near the retinal artery aneurysm in the patient showed partial absorption at 3 months of follow-up. LESSONS: Our analysis suggests that retinal macroaneurysm formed in the patient's body are due to neurofibroma type I secondary hypertension. The case study also indicated the symptoms of newly discovered neurofibroma type I which led to retinal microvascular abnormalities. We believe that such changes in eye blood vessels are rare and this case provides an insight to the field of neurology and ophthalmology.

Intravenous Alteplase for Acute Stroke and Pulmonary Embolism in a Patient With Recent Abdominoplasty.

INTRODUCTION: Major surgery in the past 14 days is a relative contraindication to treatment of acute stroke with intravenous (IV) alteplase. The 2016 American Heart Association/American Stroke Association scientific statement discussing inclusion and exclusion criteria for alteplase in acute stroke allows for provider judgment citing a lack of evidence to support surgery as an absolute contraindication. CASE REPORT: A 59-year-old woman presented with acute left hemiparesis, dysarthria, and acute respiratory failure. National Institutes of Health Stroke Scale was 17. Two days prior she underwent abdominoplasty and liposuction. Computed tomography angiogram of the head demonstrated acute occlusion of right M2, and computed tomography angiogram of the chest was positive for bilateral pulmonary emboli. After urgent consultation with the plastic surgery and neurosurgery teams, the patient was treated with IV alteplase followed by cerebral mechanical thrombectomy. This was complicated by surgical-site hemorrhage in the abdomen requiring operative intervention. Abdominal hemorrhage was controlled and the patient showed remarkable neurological recovery, later being discharged with no residual neurological deficits. CONCLUSIONS: Interdisciplinary collaboration can successfully inform the decision to treat acute ischemic stroke with IV alteplase in the setting of recent major surgery.

Retinal Macroaneurysm Associated with Congenital Anomalous Retinal Artery.

PURPOSE: Retinal arteriolar macroaneurysms are a common cause of vision loss in elderly patients with hypertension and cardiovascular disease. Their occurrence in the young, however, is not well known. The purpose of this article is to describe an unusual cause of retinal arteriolar macroaneurysm in a healthy young man. CASE REPORT: A 30-year-old man presented with preretinal hemorrhage and macular exudation due to ruptured retinal artery macroaneurysm. The patient was treated with intravitreal bevacizumab and laser photocoagulation to the macroaneurysm. The exudation and preretinal hemorrhage resolved over several months. Fluorescein angiogram at this stage revealed a congenital anomalous retinal artery. CONCLUSIONS: Congenital anomalous retinal artery may be associated with retinal artery macroaneurysm even in the young age in the absence of any other predisposing factors. The presentation and treatment of such retinal artery macroaneurysm, however, may remain the same to those that occur in older patients.

Anomalous optical coherence tomography findings in Wyburn-Mason syndrome and isolated retinal arteriovenous malformation.

We report 2 cases of unilateral retinal arteriovenous malformation (AVM) with previously unreported anomalies of the inner retinal layers detected on spectral domain optical coherence tomography (SD-OCT): a 5-year-old girl with a large unilateral retinal AVM, ipsilateral visual acuity of 20/200, and ipsilateral intracranial AVM; and a 10-year-old boy with a large unilateral retinal AVM, ipsilateral visual acuity of 20/20, ipsilateral temporal visual field defects, and no intracranial AVM. Both macular SD-OCT findings showed multiple large inner retinal vessels that created a prominent shadowing artifact, retinal thickening, and speckling and heterogeneity of inner retinal layers.

Binarization of enhanced depth imaging optical coherence tomographic images of an eye with Wyburn-Mason syndrome: a case report.

BACKGROUND: To report a thicker choroid and larger choroidal luminal area in an eye with Wyburn-Mason syndrome. To the best of our knowledge, this is the first report demonstrating an increase in the choroidal thickness and the luminal area in a case of Wyburn-Mason syndrome. In addition, we report the changing appearance of retinal arteriovenous malformations over a 16-year period. CASE PRESENTATION: A 27-year-old woman, who was diagnosed with Wyburn-Mason syndrome at age 11 years, visited our clinic. Her best-corrected visual acuity was 20/12.5 in the right eye and light perception in the left eye. Severely dilated, tortuous vascular loops were distributed from the optic disc over all four quadrants of the left fundus. The vascular loops in some areas were more dilated and tortuous than 16 years earlier. Optical coherence tomography (OCT) showed retinal edema with cystic changes and enlarged choroidal vessel lumens in the left eye. The subfoveal choroidal thickness was manually measured by the caliper function in the enhanced depth imaging OCT (EDI-OCT) images. Binarization of the EDI-OCT images was performed with publicly accessible ImageJ software. The examined area of the subfoveal choroid was 1,500 µm wide, and the dark areas representing the luminal areas were traced by the Niblack method. After determining the distance of each pixel, the luminal area was automatically calculated. The subfoveal choroidal thickness was 250 µm in the right eye and 462 µm in the left eye. The luminal area of the 1,500-µm-wide subfoveal choroid was computed to be 307,165.6 µm(2) in the right eye and 545,780.7 µm(2) in the left eye. CONCLUSIONS: The EDI-OCT images showed a thicker choroid, and binarization of the EDI-OCT images showed that the luminal areas were significantly larger in the affected eye, suggesting a dilatation of the choroidal vessels. The results demonstrated that conversion of EDI-OCT images to binary images was a useful method to quantify the choroidal structure.