Selective thrombophilia screening of patients with nonarteritic anterior ischemic optic neuropathy

Kuhli-Hattenbach, Claudia; Scharrer, I.; Lüchtenberg, Marc; Hattenbach, Lars‐Olof

doi:10.1007/s00417-008-0987-0

Cited by 26 publications

(20 citation statements)

References 35 publications

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“…Acheson and M.D. Sanders describe seven cases in which there is an associated thrombophilic state and non-arteritic anterior ischemic optic neuropathy [19], and Kuhli-Hattenbach et al [39] conclude that thrombophilic disorders are associated with the development of N-AION in specific subgroups of patients. Since such a controversy in the literature is evident, our study, based on a quite large study group and a broad spectrum of thrombophilic risk factors, is aiming to illuminate any existing associations that have not been pointed out so far.…”

Section: Discussionmentioning

confidence: 97%

Thrombophilic risk factors in the pathogenesis of non-arteritic anterior ischemic optic neuropathy patients

Felekis

Kolaitis

Kitsos

et al. 2010

Graefes Arch Clin Exp Ophthalmol

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Section: Discussionmentioning

confidence: 97%

Thrombophilic risk factors in the pathogenesis of non-arteritic anterior ischemic optic neuropathy patients

Felekis

Kolaitis

Kitsos

et al. 2010

Graefes Arch Clin Exp Ophthalmol

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“…Since thrombophilic disorders do not seem to be the singular causal agent for RAO and in view of the high costs involved in comprehensive screening, it moreover seems both reasonable and justifiable to limit screening for thrombophilic disorders in patients with RAO to individuals whose risk is elevated, i.e. who had already experienced thromboembolic events at a young age or have a family history of thrombosis [13,14,15,16]. However, to date, only very few studies have attempted to investigate the role of few thrombophilic disorders in patients with RAO.…”

Section: Introductionmentioning

confidence: 99%

Selective Thrombophilia Screening in Young Patients with Retinal Artery Occlusion

Kuhli-Hattenbach

Hellstern²,

Miesbach

et al. 2016

Ophthalmologica

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Purpose: To investigate the prevalence of various thrombophilic disorders among young patients with retinal artery occlusion (RAO). Procedures: We retrospectively reviewed thrombophilia screening data of young patients ≤60 years of age with RAO and healthy controls matched for gender and age. Results: Thrombophilia screening data of 25 young patients and 62 healthy controls were analyzed. Mean patient age by the time of the RAO was 43.3 ± 10.8 years. Overall, thrombophilic defects were found to be present in 17 patients (68%) compared with 11 of 62 controls (17.7%; p < 0.0001). Multivariate logistic regression analysis confirmed a statistically significant association between the development of RAO and increased levels of lipoprotein(a) (odds ratio: 9.48; p = 0.001) and factor VIII (odds ratio: 6.41; p = 0.024). There was a strong association between the presence of thrombophilic disorders and a personal or family history of thromboembolism (p = 0.01). Conclusions: Our results indicate that screening for thrombophilic disorders among selected young patients with RAO yields positive results in a high percentage of cases.

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“…Several observations have suggested that thrombophilic disorders, such as elevated homocysteine, lipoprotein(a) and high frequency of Leiden mutation, may be pathogenetically relevant in the development of NAION by increasing the risk for venous thromboembolism (VTE) [2, 6, 7]. On the other hand, recent studies did not demonstrate an association between NAION and a wide range of thrombophilic risk factors [3].…”

Section: Discussionmentioning

confidence: 99%

“…These include small and crowded optic disks, angle closure glaucoma or other causes of markedly raised intraocular pressure, optic disk drusen and cataract extraction [4, 5]. In addition, reports of thrombotic tendencies in some patients with NAION have raised the question of whether there is a causative link between thrombophilia and NAION [2, 6, 7]. Here we present, to the best of our knowledge, the first case of NAION associated with combined protein S deficiency and heterozygosity for prothrombin G20210A mutation.…”

Section: Introductionmentioning

confidence: 99%

Nonarteritic Anterior Ischemic Optic Neuropathy and Double Thrombophilic Defect: A New Observation

Papageorgiou

Karamagkiolis²,

Dimera

2012

Case Rep Ophthalmol

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We report the first case of nonarteritic anterior ischemic neuropathy (NAION) associated with double thrombophilia: protein S deficiency and prothrombin G20210A mutation. A 58-year-old man is presented including the clinical and laboratory findings, cardiovascular profile and thrombophilia screening. The patient presented with 3/10 vision and an inferior altitudinal defect in the right eye. Funduscopic examination of the right eye revealed a hyperemic optic disk with blurred superior optic disk border and sectoral nerve fiber layer edema. Complete blood count, erythrocyte sedimentation rate and C-reactive protein were normal, suggesting a NAION. A workup of cardiovascular risk factors revealed hyperlipidemia, arterial hypertension and high-risk asymptomatic coronary artery disease. Due to the family history of deep vein thrombosis in the patient’s daughter, a thrombophilia screening was additionally performed. The results revealed a double thrombophilic defect, namely congenital protein S deficiency and heterozygosity for prothrombin G20210A mutation, which were also identified in the patient’s daughter. Anticoagulant warfarin therapy was initiated and the patient underwent a triple bypass surgery. At three-month follow-up, the right optic disk edema had resolved, leaving a pale superior optic nerve head. Visual acuity in the right eye had slightly improved to 4/10; however, the dense inferior altitudinal field defect had remained unchanged. The patient is currently treated with warfarin, atorvastatin, irbesartan and metoprolol. This case suggests that the first line of investigation in all patients with NAION involves assessment of cardiovascular risk factors. However, careful history taking will identify NAION patients who are eligible for additional thrombophilia screening: young patients without vasculopathic risk factors, bilateral or recurrent NAION, idiopathic or recurrent venous thromboembolism (VTE), positive family history of VTE, and VTE in young age or in unusual sites (e.g. cerebral, hepatic, mesenteric, or renal vein).

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Selective thrombophilia screening of patients with nonarteritic anterior ischemic optic neuropathy

Cited by 26 publications

References 35 publications

Thrombophilic risk factors in the pathogenesis of non-arteritic anterior ischemic optic neuropathy patients

Thrombophilic risk factors in the pathogenesis of non-arteritic anterior ischemic optic neuropathy patients

Selective Thrombophilia Screening in Young Patients with Retinal Artery Occlusion

Nonarteritic Anterior Ischemic Optic Neuropathy and Double Thrombophilic Defect: A New Observation

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