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高压氧治疗导致一组土耳其中央视网膜动脉阻塞患者同时存在血栓形成倾向的基因突变。

Hyperbaric oxygen treatment results in a group of Turkish central retinal artery occlusion patients with a combined presence of thrombophilic mutations.

机构信息

Adiyaman University Faculty of Medicine Department of Medical Genetics, Adiyaman, Turkey.

Bursa Yüksek Ihtisas Training Hospital Dept. of Hyperbaric Medicine, Bursa, Turkey.

出版信息

Undersea Hyperb Med. 2020 First Quarter;47(1):65-73. doi: 10.22462/01.03.2020.8.

Abstract

BACKGROUND

Central retinal artery occlusion (CRAO) is a rare ocular-ischemic syndrome causing irreversible blindness. Its pathophysiology has not been clarified, and no targeted therapies are available yet. Hyperbaric oxygen (HBO2) therapy is already an approved therapy for CRAO and has been shown to improve the visual acuity of CRAO patients safely. However, further clinical data are required to classify HBO2 therapy as a type-I general agreement for CRAO.

MATERIALS AND METHODS

Eleven patients with non-arteritic CRAO were enrolled. Patient demographics, medical history, detailed eye examinations, HBO2 therapy results, pre-/post HBO2 therapy visual acuity measurements and genotypes for common thrombophilic mutations (Factor V G1691A Leiden, Factor II G20210A, MTHFR A1298C, MTHFR C677T, and PAI-1-675 4G/5G) were obtained.

RESULT

Six patients (54%) responded to HBO2 therapy compared to five non-responders (46%). Patients admitted before 12 hours responded well to HBO2 therapy. No systemic diseases nor advanced age were statistically correlated to CRAO. A combination of mutations rather than single mutations for each patient could be seen as responsible for CRAO. No Factor V G1691A Leiden mutations and only one FII G20210A mutation were observed. Eight patients (72%) had MTHFR 677T allele, five patients (45%) had MTHFR 1298C allele, and 10 patients (91%) had the PAI-1-675 4G allele.

CONCLUSION

Not a single mutation but a combination of mutations and other unknown factors probably lead to CRAO, and if intervention is timely, HBO2 therapy offers improvement in visual acuity safely.

摘要

背景

视网膜中央动脉阻塞(CRAO)是一种罕见的眼部缺血综合征,可导致不可逆转的失明。其病理生理学尚未阐明,目前尚无靶向治疗方法。高压氧(HBO2)治疗已被批准用于 CRAO,并且已被证明可安全改善 CRAO 患者的视力。然而,需要进一步的临床数据将 HBO2 治疗归类为 CRAO 的 I 型一般共识。

材料和方法

共纳入 11 例非动脉炎性 CRAO 患者。记录患者的人口统计学、病史、详细眼部检查、HBO2 治疗结果、治疗前后视力测量值以及常见血栓形成倾向突变(因子 V G1691A 利得、因子 II G20210A、MTHFR A1298C、MTHFR C677T 和 PAI-1-675 4G/5G)的基因型。

结果

6 例(54%)患者对 HBO2 治疗有反应,而 5 例(46%)患者无反应。12 小时内入院的患者对 HBO2 治疗反应良好。无系统性疾病或高龄与 CRAO 相关。每个患者的突变组合而不是单个突变可归因于 CRAO。未观察到因子 V G1691A Leiden 突变,仅观察到一个 FII G20210A 突变。8 例(72%)患者有 MTHFR 677T 等位基因,5 例(45%)患者有 MTHFR 1298C 等位基因,10 例(91%)患者有 PAI-1-675 4G 等位基因。

结论

不是单个突变,而是突变组合和其他未知因素可能导致 CRAO,如果干预及时,HBO2 治疗可安全提高视力。

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