Persistent fetal vasculature associated with orbital lymphangioma.

Persistent fetal vasculature (PFV), also known as persistent hyperplastic primary vitreous (PHPV), is a failure of regression of the primary vitreous, which usually occurs in isolation. Orbital lymphangiomas present in early life with eyelid swelling or proptosis and are not associated with intraocular abnormalities. We report the case of a male infant with PHPV and ipsilateral orbital lymphangioma.     

Two cases of orbital lymphangioma associated with vascular abnormalities of the retina and iris

PURPOSE: To report 2 patients with combined intraocular and orbital vascular abnormalities. DESIGN: Two interventional case reports. MAIN OUTCOME MEASURES: Clinical and pathologic findings. INTERVENTION/TESTING: Orbitotomy, fluorescein angiography, magnetic resonance imaging, and radiation therapy. RESULTS: Two patients presented with vision loss, intermittent proptosis, and cosmetic deformity. These patients had orbital lymphangioma, ipsilateral retinal and iris vascular malformations, and smaller corneal diameter on the affected side. CONCLUSIONS: The coexistence of these diverse vascular anomalies supports the established hypothesis of pluripotential orbital vascular anlagen. Disruptive influences of various types during embryogenesis or development may produce a variety of congenital orbital and intraocular vascular malformations.     

Concomitant lymphangioma and arteriovenous malformation of the orbit

An 8-year-old girl had an orbital-adnexal lymphangioma and ipsilateral orbital and middle cranial fossa arteriovenous malformations. High-resolution magnetic resonance image scanning, orbital ultrasonography, and digital subtraction angiography were used for diagnosis and preoperative assessment. Complications related to this vascular neoplasm included amblyopia, acute hemorrhage with proptosis, exposure keratitis, cosmetic deformity, and recurrent preseptal cellulitis. The girl was treated with both embolization and orbital surgery for recurrent hemorrhage and proptosis. We postulated that the coexistence of a lymphangioma and arteriovenous malformation represents an unusual and extensive maldevelopment of vascular embryogenesis.     

Intracranial paraganglioma (glomus tumor) with orbital extension.

PURPOSE: To describe the clinical features of an intracranial glomus tumor with orbital extension. METHODS: Case report. RESULTS: A 15-year-old girl was examined for a large, vascular intracranial mass extending into the orbit. Attempted orbital biopsy was aborted for fear of uncontrollable hemorrhage. Tumor embolization and partial resection was performed. Histology was consistent with paraganglioma (glomus tumor). CONCLUSION: The orbital surgeon should include glomus tumor in the differential diagnosis of vascular orbital lesions. Their vascularity and hemorrhagic potential should be considered when approaching these lesions surgically.     

Distensible venous malformations of the orbit: clinical and hemodynamic features and a new technique of management.

OBJECTIVE: To investigate distensible venous malformations of the orbit (DVMO) as part of a spectrum of orbital vascular malformations, including some that involved periorbital skin, extraorbital sites (central nervous system or nasal sinuses), or combinations of these. The authors also investigated the effectiveness of a new technique of management for selected cases. DESIGN: Retrospective noncomparative case series. PARTICIPANTS: Thirty patients had distensible venous anomalies, of which four were combined distensible venous-lymphatic vascular malformations. Distensible lesions were defined as those showing clinical or radiographic expansion with Valsalva maneuver or when the head was placed in a dependent position. These lesions were then classified as superficial (anterior to the equator of the globe), deep (posterior to the globe's equator), combined (deep and superficial), or complex (with intracranial or major extraorbital involvement). INTERVENTION: Surgery was performed on 15 patients (50%), mainly for pain or for cosmetic indications. Six patients underwent this new technique, which involved intraoperative direct venography with control of outflow via pressure at the superior or inferior orbital fissure. The venous malformation was then embolized (by use of cyanoacrylate glue) and excised. RESULTS: The mean age at presentation was 28.2 years (range, 8 months to 75 years). Sixty-six percent of cases involved the left orbit. Superior and medial orbital involvement was most common. Three cases (10%) were classified as superficial, and 13 (43%) as deep. Six patients (20%) had combined superficial and deep components. Eight (27%) had major extraorbital involvement (4 intracranial, 2 facial, and 2 paranasal sinus). Direct venography demonstrated complex multichannel anomalies draining to various sites, including the face and pterygopalatine fossa, without necessarily having a direct connection to the major orbital venous circulation. CONCLUSIONS: Distensible venous malformations of the orbit are part of a spectrum of developmental venous malformations that may be localized to the orbit or involve it as part of a more extensive lesion. The authors describe their clinical and radiologic features and report a new technique of management for selected cases. This method of vascular isolation and embolization of lesions may greatly facilitate excision.     

Abnormalities of the optic papilla in (peri)orbital encephaloceles--a contribution to the common pathogenesis of these abnormalities

Eleven patients (6 female, 5 male) with unilateral (6) or bilateral (5) (peri)orbital encephaloceles (nasofrontal in 4 cases, naso-orbital in 3, spheno-orbital in 4), were ophthalmologically examined. All had normal anterior segments, but ipsilateral or bilateral anomalies of the optic nerve head such as coloboma, pits, morning glory syndrome, dysplasia, tilted disk syndrome, hypoplasia, or a persistent hyaloid artery. In regard to the pathogenesis of (peri)orbital encephaloceles associated with optic disk malformations a common clefting defect in the neuroectodermal and neurocristal midline structures of the head is postulated, taking place in the fourth to sixth week of development.     

B超对眶部血管畸形的诊断

目的 探讨眼科专用B超对眶部血管畸形的诊断价值.方法 回顾分析了对眼科专用B超诊断并经过其他辅助检查证实的21例眶部血管畸形患者声像图特征.结果 21例眶部血管畸形,颈动脉海绵窦瘘12例,其中11例行脑血管造影检查,1例因患儿太小行核磁共振检查.眶静脉曲张9例,均行彩色多普勒超声、CT检查得到证实.结论 眼眶部血管畸形具有较典型的超声图像特征,B超是一种有价值的辅助检查     

Orbital vascular malformations: a consensus statement on terminology and its clinical implications. Orbital Society

PURPOSE: Orbital venous anomalies and lymphangiomas have been generally classified on morphologic grounds. However, conflicting concepts of these lesions have hampered scientific dialogue and confused clinicians, with occasionally serious consequences for patients. As a step toward uniform nomenclature and better communication, a consensus on the terminology of orbital vascular malformations was sought among the members of the Orbital Society. METHODS: A classification of orbital vascular malformations based on their hemodynamic relationships, as revealed by clinical and imaging features, was presented, discussed, and adopted at the 1998 Annual Meeting of the Orbital Society. A consensus statement was drafted and distributed to all members. The statement was then modified in accordance with members' responses, which included minor stylistic recommendations but no substantive dissent. RESULTS: Orbital vascular malformations may be classified according to their hemodynamic relationships as no flow, venous flow, and arterial flow lesions. Assignment to each group is based on pertinent clinical and imaging criteria. Mixed forms with both venous and no flow components are grouped within the venous flow category to emphasize the clinical importance of that relationship. CONCLUSIONS: A hemodynamic classification of orbital vascular malformations emphasizes features most germane to their management. It should reduce the clinical confusion resulting from purely morphologic differentiation. Widely accepted definitions may allow a better comparison of therapeutic protocols for these troublesome lesions.     

Progressive visual field defects in patients with intracranial arteriovenous malformations

Two men, aged 59 and 36 years, had large, intracranial arteriovenous malformations. Both patients developed severe, bilateral visual loss secondary to unrecognized chronic papilledema. Lumbar puncture disclosed increased intracranial pressure. Neuroimaging disclosed only vascular malformations. The patients were treated by embolization of the vascular malformations and ventriculoperitoneal shunting procedures. The malformation of one patient was excised.     

Lens-sparing vitrectomy in predominantly posterior persistent fetal vasculature syndrome in eyes with nonaxial lens opacification

PURPOSE: To determine indications and document anatomic and functional outcomes for lens-sparing vitreous surgery in eyes with predominantly posterior persistent fetal vasculature syndrome and nonaxial lens opacification. STUDY DESIGN: Retrospective interventional clinical series. METHODS: The authors performed lens-sparing vitreous surgery on nine eyes of infants with predominantly posterior persistent fetal vasculature syndrome and nonaxial lens opacification without removing the crystalline lens. Indications for surgery included primarily posterior complications of persistent fetal vasculature syndrome (localized tractional retinal detachment), a centrally clear lenticular axis, and frequently strabismus. RESULTS: Postoperatively, seven of nine eyes showed no evidence of increasing lens opacification with a median follow-up period of 16.8 months (range, 5-29 months). The first eye operated on developed a rapidly progressive cataract and prompted modification of the surgical technique. One additional eye also required cataract extraction for progressive lenticular opacification 23 months after surgery. No eyes developed postoperative retinal detachment, and all eyes maintained vision at the final follow-up. Of the seven eyes with strabismus, five improved after vitreous surgery alone, and two required additional strabismus surgery. CONCLUSIONS: This series shows that, in selected cases of persistent fetal vasculature syndrome that are predominantly posterior in nature with nonaxial lens opacification, lens-sparing vitrectomy can be of benefit.     

重视眼眶血管性疾病病理和血液动力学分类的应用

眼眶血管性疾病是最常见的一类眼眶病变,主要包括血管瘤和血管畸形,临床表现复杂、治疗方法多样.规范分类是选择合理治疗方案的重要前提,美国和加拿大的眼眶学界已根据病理类型和血液动力学特点,对眼眶血管性疾病提出了确切的分类,并日益被欧美眼眶外科医师广泛采用.但目前我国眼眶血管性疾病研究仍沿用传统的形态学分类,该分类未能明确眼眶血管瘤和血管畸形之间的细胞病理学差异,且忽略了眼眶血管畸形的血液动力学特征,给临床治疗带来很多不必要的问题.应充分认识眼眶血管性疾病病理和血液动力学分类方法的优点,积极推广应用,为针对性地选择适当的治疗方法提供依据,提高我国眼眶血管性疾病的临床治疗水平.     

眼眶血管性肿瘤和畸形的超声及CT诊断

目的 探讨眼眶血管性肿瘤和畸形的超声(标准化A／B超)及CT检查诊断价值。方法 收集108例眼眶血管性病变患者的临床资料和超声(98例)及CT扫描(108例)图像进行回顾性分析,其中94例经手术及病理证实。海绵状血管瘤54例,静脉曲张26例,静脉性血管瘤13例,婴儿型血管瘤5例,淋巴管瘤6例,其他肿瘤4例。结果 超声检查肿瘤显示率达98％(96／98),假阴性率2％(2／98),术前定性确诊率为93％(91／98)。CT扫描的肿瘤显示率达100％(108／108),术前定性确诊率为92％(99／108)。结论 眼眶血管性肿瘤和畸形的超声检查与CT扫描联合应用对判断病变的性质、范围、位置及手术入路的选择至关重要。（中华眼科杂志,2004,40：364-367)     

Orbital colour Doppler imaging in chronic ocular ischaemic syndrome

Background: The clinical syndrome of chronic ocular ischaemia may be difficult to diagnose due to its wide range of non-specific presentations, and its diagnosis often implies the presence of underlying severe carotid occlusive disease. Colour Doppler imaging (CDI), a recent advance in ultrasonography that allows for colour-encoded blood flow data of a vascular structure to be displayed simultaneously on a conventional real-time gray-scale B mode image, has been used in the assessment of ocular and orbital vasculature. Method: Four patients with chronic ocular ischaemic syndrome whose diagnoses were aided by CDI are presented. Results: Orbital CDI was successful in confirming the diagnosis in all four cases. Reversal of blood flow in the ophthalmic arteries was demonstrated. Central retinal vessels were not detected with CDI in all four patients with complete occlusion of the ipsilateral internal carotid artery. One of the four patients had intermittent reversal of ophthalmic arterial flow ipsilateral to the 60% stenosed internal carotid artery. Conclusion: This non-invasive technique is an excellent alternative to invasive vascular studies such as angiography for the diagnosis and evaluation of the chronic ocular ischaemic syndrome.     

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.     

Bonnet-Dechaume-Blanc syndrome.

A 16 year old girl presenting the visual disturbances was found to have a right retinal arteriovenous communication. The provisional diagnosis of Bonnet-Dechaume-Blanc syndrome was confirmed by angiographic demonstration of ipsilateral orbital and intracranital arteriovenous malformations.     

Duane type I retraction syndrome associated with Wyburn-Mason syndrome

Purpose: Our aim is to report the co-existence of Duane’s retraction syndrome and Wyburn-Mason syndrome, a rare condition characterized by arteriovenous malformations (AVMs) in the central nervous system and retina.

Methods: An 11-year-old boy was referred for evaluation of strabismus present since birth. On examination his uncorrected visual acuity was 6/6 in each eye, with small angle left eye esotropia in the primary position, ipsilateral face turn, abduction deficit, lid fissure narrowing in adduction and widening in abduction; plus typical features of left-sided type I Duane syndrome were present. The left fundus demonstrated localized, well-compensated, markedly convoluted, dilated and tortuous retinal vessels and venous congenital retinal macrovessel, which traverse the macular region. The right fundus was unremarkable. In order to elucidate if this retinal vascular malformation is associated with similar lesions in the orbit, paranasal sinuses and/or brain, magnetic resonance imaging (MRI) was performed, followed by digital subtraction angiography of the brain vessels.

Results: Clinical features of retinal disease (typical retinal vascular malformation) and brain imaging studies have led to the diagnosis of Wyburn-Mason syndrome. Digital subtraction angiography of the brain revealed an AVM of 30?mm maximal diameter in the left occipital lobe.

Conclusions: Intracranial AVM might have affected the normal vascular development during the second month of gestation, causing involutional changes of the sixth nerve and resulted in Duane’s syndrome by “steal phenomenon.” Retinal AVM may point to concomitant intracranial AVMs, thus warranting neurological assessment. Patients with AVM of the retina should be examined early with brain and orbital neuroimaging to rule out cerebral AVMs.     

Optic Neuropathy Following Endovascular Coiling of an Orbital Varix

Orbital varices are vascular malformations consisting of abnormal venous channels. Indications for intervention include loss of vision, elevated orbital pressure with motility deficit, and intractable pain. We present a case of a 65-year-old woman with an orbital varix, who underwent embolization via endovascular coiling. This treatment resulted in an intralesional thrombosis with subsequent enlargement of the varix, leading to a compressive optic neuropathy and severe vision loss. If an intervention is to be contemplated, the possibility of this rare but serious complication should be carefully considered and patients appropriately counseled.     

Das kongenitale retinozephalofaziale vaskuläre Malformations-Syndrom

The congenital retinocephalic facial vascular malformation syndrome is characterized by unilateral, nonhereditary retinal and cerebral arteriovenous malformations (AVMs) and is occasionally associated with orbital vascular changes. Typical signs are facial and oral mucosal vascular changes, rarely with changes of the maxilla or mandible. An AVM causes high blood flow because of direct connection (shunting) of major vessels without interposition of capillaries. Ocular complications include retinal and vitreous hemorrhages, edema, venous occlusion (risk of rubeosis iridis and secondary glaucoma). Neuroophthalmological changes comprise optic atrophy, papilledema, proptosis, pupillary changes, hemianopia, gaze paresis, nystagmus, cranial nerve palsies, strabismus, and amblyopia. Neurological complications include headache, subarachnoid hemorrhage, convulsions, cerebral hemorrhages, increased intracranial pressure, hydrocephalus, and stroke with hemiparesis. Threatening oral hemorrhages or epistaxis may rarely occur.     

Maternal intrauterine herpes simplex virus infection leading to persistent fetal vasculature

Herpes simplex virus can cause serious ocular and systemic disease in the neonate. The mode of transmission to the neonate is usually from the maternal birth canal to the fetus intrapartum; but much more rarely, hematogenous transplacental infection can affect the developing fetus months prior to birth. Persistent fetal vasculature occurs when there is persistence of the fetal ocular vasculature, which normally regresses prior to birth. To our knowledge, we report the first case of serologically proven intrauterine herpes simplex virus infection associated with bilateral persistent fetal vasculature in a surviving term infant. Arch Ophthalmol. 2000;118:837-840