The congenital unilateral retinocephalic vascular malformation syndrome (bonnet-dechaume-blanc syndrome or wyburn-mason syndrome): review of the literature

Retinal arteriovenous malformations represent a rare syndrome in which a direct connection of major vessels without interposition of capillaries may lead to various complications such as thrombosis and vessel occlusion. This review comprises the computer-stored data of all the 121 patients with arteriovenous malformations described in the literature. Twenty-seven patients had typical Bonnet-Dechaume-Blanc syndrome (in this article designated as congenital retinocephalofacial vascular malformation syndrome), 25 had incomplete congenital retinocephalofacial vascular malformation syndrome (without facial skin lesions), 57 had isolated retinal arteriovenous malformations, and 12 had arteriovenous communications of the retina and distinct neurological signs, but without neuroradiological evidence of cerebral arteriovenous malformations (presumed cerebral arteriovenous malformations). Concerning the retinal findings, we found a distinct difference by comparing patients with congenital retinocephalofacial vascular malformation syndrome and those with isolated retinopathy without cerebral or facial malformations: extensive retinal malformations of vessels of most parts of the fundus occurred conspicuously more often in patients with retinal and cerebral arteriovenous malformations. In contrast, local retinal arteriovenous malformations occurred in all patients with isolated retinopathy without cerebral or facial malformations and rarely in patients with congenital retinocephalofacial vascular malformation syndrome. In conclusion, patients with arteriovenous communications of the retina should be examined early with brain and orbital neuroimaging to rule out cerebral arteriovenous malformations. Current therapeutic strategies include endovascular, surgical, and radiation procedures.     

Acquired retinal arteriovenous communications in occlusive disease of the carotid artery

Retinal arteriovenous communications proximal to extensive areas of complete vascular closure developed in three patients with occlusive disease of the carotid arteries. In one case, the authors document the development of the arteriovenous communications through successive enlargement of small retinal vessels after progressive signs of retinal ischemia in the form of narrowed retinal arteries, venous dilation and beading, microaneurysms, retinal dot and blot hemorrhages, cotton-wool spots, and capillary nonperfusion. The development of arteriovenous communications in carotid occlusive disease has not been described previously.     

Retinal arteriovenous communication.

BACKGROUND: Disturbances in development of the embryonic vascular system, though uncommon, may cause formation of retinal arteriovenous communications (RAC). Such anomalies may also involve the intracranial, orbital, and maxillofacial blood vessels. Field loss, neovascular glaucoma, optic atrophy, Parinaud syndrome, hemiparesis, hemiplegia, and proptosis may be associated with RAC. CASE REPORT: A 27-year-old woman was referred for photography of a vascular anomaly in her left eye. I noted a large arteriovenous malformation joining major temporal branches of the left central retinal artery and vein. External and internal examination of both eyes was otherwise unremarkable. Visual-field testing revealed nasal field disturbances for the left eye, but none for the right eye. CT scan showed no obvious intracranial abnormalities. CONCLUSIONS: Visual-field testing may show scotomas associated with retinal arteriovenous communications. It is possible for patients with RAC to have no associated vascular abnormalities elsewhere in the circulation of the head.     

Hemangioma racemosum of retina: a case report

PURPOSE: To report a case of haemangioma racemosum, a rare congenital disease. PATIENT: Female patient, aged 17, with unilateral decrease of visual acuity. Examination showed retinal arteriovenous malformations. Fluorescein angiography demonstrated variably sized arteriovenous communications, tortuosity and dilatation of the malformed vessels as well as normal vessels. CONCLUSION: The reported case shows the difficulties that may be encountered in differentiating haemangioma racemosum from hemangiomas associated with other disorders. A complete physical examination and angiography are essential in distinguishing difficult cases.     

Retinal vascular tumors

Retinal vascular tumors can be classified into four distinct clinical entities, which include retinal capillary hemangioma, retinal cavernous hemangioma, retinal arteriovenous communications (Wyburn-Mason syndrome), and retinal vasoproliferative tumor.     

Incontinentia pigmenti (Bloch-Sulzberger syndrome) and retinal changes.

Incontinentia pigmenti is associated with various anomalies in 80% of cases. Among the most important are the ocular abnormalities and more particularly a retrolental mass with detachment of a dysplastic retina. At the basis of this manifestation are retinal vascular changes, characterised at first by ectatic tortuous veins and arteriovenous anastomoses as well as by aneurysmal-like dilatations.     

Stickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologist

The entity described by Gunnar Stickler, which included hereditary arthro-ophthalmopathy associated with retinal detachment, has recently been recognised to consist of a number of subgroups, which might now more correctly be referred to as the Stickler syndromes. They are the most common clinical manifestation of the type II/XI collagenopathies and are the most common cause of inherited rhegmatogenous retinal detachment. This review article is intended to provide the ophthalmologist with an update on current research, subgroups, and their diagnosis together with a brief overview of allied conditions to be considered in the clinical differential diagnosis. We highlight the recently identified subgroups with a high risk of retinal detachment but with minimal or absent systemic involvement--a particularly important group for the ophthalmologist to identify.     

Decompensation of a congenital retinal macrovessel with arteriovenous communications induced by repetitive rollercoaster rides

PURPOSE: To describe a congenital retinal venous macrovessel that communicates with a cilioretinal artery and a retinal artery, and to report how this vascular anomaly decompensated as a result of repetitive rollercoaster rides. METHODS: Case report with serial fundus photography and fluorescein angiography. RESULTS: After a short period of intensive rollercoaster rides, a 19-year-old woman complained of reduced vision in one eye. Funduscopy and fluorescein angiography revealed a venous congenital retinal macrovessel with arteriovenous communications, and retinal exudation was visible at the termination of the anomalous vessel. Exudation resolved, and acuity recovered after a period of avoidance of rollercoaster rides. CONCLUSION: This case represents the first report of a retinal artery and a cilioretinal artery communicating with a congenital retinal macrovessel, and it suggests that such patients are at increased risk of retinal vascular decompensation if involved in activities associated with changes in g-forces, such as bungee jumping or rollercoaster rides.     

Central retinal vein occlusion and opto-ciliary shunts. An angiographic diagnosis]

Opto-ciliary shunts are compensatory bypass channels from the retinal venous system to the choroidal veins in case of long standing central retinal vein occlusion. Indocyanine green angiography with the Scanning Laser Ophtalmoscope may be helpful to differentiate acquired optociliary shunts from retinal or choroidal arteriovenous malformations.     

Serous Retinal Detachment and Cystoid Macular Edema in a Patient with Wyburn-Mason Syndrome

Abstract

Wyburn-Mason syndrome is a rare phacomatosis characterized by unilateral arteriovenous malformations (AVMs) involving the brain, retina, and (rarely) the skin. The diagnosis is concluded with dilated fundus examination and markedly dilated tortuous vascular loops with arteriovenous communications on fluorescent angiography. We present a 14-year-old male patient with Wyburn-Mason syndrome who developed serous macular neuroretinal detachment, cystoid macular edema (CME), and consequent visual deterioration in the left eye. To the best of our knowledge, this is the first report of a patient with Wyburn-Mason syndrome who developed serous retinal detachment and CME.     

Takayasu disease on the centenary of its discovery

Takayasu disease was first reported in 1908 by Mikito Takayasu as “a case of peculiar changes in the central retinal vessels.” Because in these patients the pulse of the radial artery is impalpable, investigations focusing on the ischemic symptoms of the upper body were conducted. In 1948, Shimizu and Sano named this pathological condition “pulseless disease.” Since then, the lesions of Takayasu disease have been detected not only in the aortic arch and its main branches but also in various vessels, including the abdominal aorta and renal arteries. The ocular symptoms of Takayasu disease are considered to be due to ischemia in the retina and choroid. The typical wreath-like arteriovenous anastomosis around the disc reported by Takayasu is observed at a relatively late stage of the disease. The characteristic fundus findings of Takayasu disease include tortuosity and dilatation of the central retinal artery and vein, retinal arteriovenous anastomosis, prominent retinal vasculature, microaneurysms in the capillaries, occlusion of retinal arterioles, soft exudate, choked disc, and optic atrophy. Fluorescein angiography reveals retinal microaneurysms, sludging, slower blood flow, dilatation of retinal vessels, leakage of fluorescence dye due to increased vascular permeability, and arteriovenous anastomosis. Arteriovenous anastomosis initially appears in the periphery at the early stage, and in the arteriovenous crossing at the advanced stage. Systemic administration of corticosteroids is required to prevent vascular stenosis during the early stages of Takayasu disease. Reconstruction of the carotid artery may improve subjective symptoms and fundus findings.     

Intraocular manifestations of systemic neoplasms

There are multiple possible intraocular manifestations in patients with systemic neoplasms. At first line there are uveal, retinal and vitreous metastases from carcinomas, melanomas and lymphomas. In patients with von Hippel Lindau syndrome or familiar adenomatous polyposis coli (FAP), Gardner or Turcot syndromes, fundus examinations can help in the primary diagnosis and thereby facilitate the early detection of systemic neoplasms such as cerebral and spinal haemangioblastoma, kidney or bowel cancer. Furthermore there are rare ocular paraneoplastic syndromes such as the cancer- or melanoma-associated retinopathies (CAR/MAR), the paraneoplastic optic neuropathy (PON) and the bilateral diffuse melanocytic proliferation (BDUMP) that develop secondary to systemic malignancies and can be the primary manifestation.     

Retinal microvascular abnormalities and their relationship with hypertension, cardiovascular disease, and mortality

Retinal microvascular abnormalities, such as generalized and focal arteriolar narrowing, arteriovenous nicking and retinopathy, reflect cumulative vascular damage from hypertension, aging, and other processes. Epidemiological studies indicate that these abnormalities can be observed in 2-15% of the nondiabetic general population and are strongly and consistently associated with elevated blood pressure. Generalized arteriolar narrowing and arteriovenous nicking also appear to be irreversible long-term markers of hypertension, related not only to current but past blood pressure levels as well. There are data supporting an association between retinal microvascular abnormalities and stroke, but there is no convincing evidence of an independent or direct association with atherosclerosis, ischemic heart disease, or cardiovascular mortality. New computer-related imaging methods are currently being developed to detect the presence and severity of retinal arteriolar narrowing and other microvascular characteristics. When reliably quantified, retinal microvascular abnormalities may be useful as risk indicators for cerebrovascular diseases.     

Surgical transvenous embolization of spontaneous carotid cavernous sinus fistulas in two patients

BACKGROUND: Arteriovenous communications in which blood flows from meningeal branches of the internal and external carotid arteries into the venous circulation around and in the cavernous sinus are termed spontaneous (dural) carotid sinus cavernous fistulas. Due to their mostly low shunt volume they are rarely life threatening, but without treatment they may cause severe ocular complications like episcleral secondary glaucoma, central vein occlusion or exudative retinal detachment. Traditional therapy is the transarterial approach by an interventional neuroradiologist. If such an approach is not possible or unsuccessful a transvenous route has to be considered. PATIENTS AND METHODS: Two patients underwent anterior orbitotomy via sub brow incision or infraciliary incision with cannulation of the superior ophthalmic vein or the inferior ophthalmic vein and embolization of the cavernous sinus with platinum coils. RESULTS: Successful closure was achieved on angiography and normalisation of clinical symptoms after a short period of progressive venous congestion. CONCLUSIONS: For arteriovenous fistulas that cannot be embolized arterially the surgical transvenous orbital route may work as a method of second choice. When performed by an interdisciplinary team (orbital surgeon, interventionell neuroradiologist) it is a technically straightforward, effective and promising approach.     

Arteriovenous adventitial sheathotomy for the treatment of macular edema associated with branch retinal vein occlusion

PURPOSE: To report arteriovenous adventitial sheathotomy for treatment of macular edema associated with branch retinal vein occlusion. METHODS: Case reports with review. Five eyes of five patients with best-corrected visual acuity of less than 20/200 secondary to branch retinal vein occlusion had pars plana vitrectomy and arteriovenous adventitial sheathotomy and were followed postoperatively for a mean of 6.5 years (range, 5 to 7 years). RESULTS: In four of five eyes, the best-corrected visual acuity improved to 20/30 to 20/70. In the remaining eye, visual acuity remained at finger counting secondary to macular ischemia. CONCLUSION: Arteriovenous adventitial sheathotomy may be beneficial for select patients with poor vision secondary to branch retinal vein occlusion.     

Ocular manifestations of multiple sclerosis

PURPOSE OF REVIEW: Multiple sclerosis is an autoimmune demyelinating disorder of the nervous system that is commonly manifested by visual system involvement and that may initially present with ophthalmologic symptoms. This paper reviews recent findings regarding the ocular manifestations in multiple sclerosis. RECENT FINDINGS: Manifestations of multiple sclerosis in the eye include both the afferent and efferent visual pathways. Optic neuritis, the most common ocular manifestation of multiple sclerosis, may be the initial clinical disease manifestation. Recent long-term follow-up data show that most patients with demyelinating optic neuritis have an excellent prognosis for recovery of central visual acuity. Evidence is emerging, however, for significant and broad reduction in both contrast sensitivity and color perception in multiple sclerosis patients despite near-normal visual acuities. Ocular motor deficits in multiple sclerosis include internuclear ophthalmoplegia and nystagmus, resulting in diplopia, oscillopsia, blurred visual, loss of stereopsis, and reading fatigue. Multiple sclerosis also may be associated with ocular inflammatory diseases, in particular pars planitis and retinal periphlebitis. SUMMARY: Ocular findings may be initial manifestations of multiple sclerosis and may predict additional demyelinating events. Recognizing these syndromes and signs will help clinicians to properly evaluate the patient, formulate an appropriate differential diagnosis, be able to discuss the prognosis with the patient, and help develop an effective therapeutic plan.     

New developments in retinal drusen

Retinal drusen are an important manifestation of age-related maculopathy, and increase with ageing. Recent studies have shown that gentle laser photocoagulation can lead to resolution of soft drusen and may lessen the high risk of development of choroidal neovascularisation in these cases. Laser induced regression of retinal drusen appears to be a safe technique, but no long term results are yet available. Retinal drusen may also occur as a dominantly inherited disorder and current evidence suggests that these represent more than one disorder. Misclassification of retinal drusen as retinal exudates is an important cause of false positive referral in diabetic retinopathy screening programmes.     

Fundus fluorescein angiography of patients with severe hypertensive nephropathy

• Purpose: To analyze the fluorescein angiograms of patients with hypertensive renal failure. • Methods: Fluorescein angiograms were obtained of 34 patients with hypertensive renal failure. The glomerular filtration was less than 20 ml/min in each patient. • Results: Capillary nonperfusion and a coarse retinal capillary bed are the hallmark of the hypertensive retinopathy. Tortuons retinal arterioles or tortuous retinal arteriovenous anastomoses are observed. It is suggested that capillary collaterals shunt arterioler obstructions or short-cut nonperfused capillary beds; these remodel into tortuous arterioles or arteriovenous anastomoses with regular caliber. Elschnig spots and delayed choroidal filling are signs of hypertensive choroidopathy. Depigmentation spots of the retinal pigment epithelium without a central pigment clump are considered atypical Elschnig spots. • Conclusions: Retinal pigment epithelial changes are permanent scars of hypertensive choroidopathy, while coarse retinal capillary bed and tortuous retinal arterioles or arteriovenous anastomoses are the result of hypertensive retinopathy in these patients with hypertensive renal failure.     

Ocular manifestations of cat-scratch disease.

Bartonella henselae has only recently been isolated, characterized, and found to be the principal cause of cat-scratch disease (CSD). The availability of specific serologic investigations has allowed the recognition of a spectrum of ocular CSD syndromes that previously were ill defined and considered idiopathic. The primary inoculation complex causing regional lymphadenopathy is represented in the eye by Parinaud's oculoglandular syndrome; B. henselae is the most common cause. Leber's neuroretinitis has been identified for 80 years, and new data suggest that it is commonly a manifestation of CSD; the extent of the association remains to be determined. CSD optic neuritis is also described. The vitreoretinal manifestations include anterior uveitis, vitritis, pars planitis, focal retinal vasculitis, a characteristic retinal white spot syndrome, Bartonella retinitis, branch retinal arteriolar or venular occlusions, focal choroiditis, serous retinal detachments, and peripapillary angiomatous lesions. The pattern of ocular disease in AIDS-associated B. henselae infections is poorly delineated; unusual manifestations include conjunctival and retinal bacillary angiomatosis. The benefit of antimicrobial therapy for CSD in immunocompetent individuals has been difficult to establish, partly because most infections are self limited. Empirically, azithromycin, ciprofloxacin, rifampin, parenteral gentamicin, or trimethoprim-sulfamethoxazole provide the best therapeutic choices to minimize damage to the eye.     

Posterior segment manifestations of HIV/AIDS

The ocular posterior segment manifestations of AIDS may be divided into four categories: retinal vasculopathy, unusual malignancies, neuro-ophthalmologic abnormalities, and opportunistic infections. Microvasculopathy is the most common manifestation. Opportunistic infections, particularly cytomegalovirus retinitis and progressive outer retinal necrosis, are the most likely to result in visual loss due to infection or subsequent retinal detachment. Diagnosis and treatment are guided by the particular conditions and immune status of the patient.