单剂量玻璃体内注射地塞米松治疗家族性视网膜动脉大动脉瘤后慢性黄斑水肿的长期消退情况

Long-term resolution of chronic macular edema after a single dose of intravitreal dexamethasone in familial retinal arterial macroaneurysm.

作者信息

AlZaid Abdulrahman, Magliyah Moustafa, Schatz Patrik, Al-Dhibi Hassan

机构信息

Vitreoretinal Division, King Khaled Eye Specialist Hospital , Riyadh, Saudi Arabia.

Department of Ophthalmology, Clinical Sciences, Skane County University Hospital, Lund University , Lund, Sweden.

出版信息

Ophthalmic Genet. 2020 Aug;41(4):394-396. doi: 10.1080/13816810.2020.1766088. Epub 2020 May 19.

DOI:10.1080/13816810.2020.1766088

PMID:32429784

Abstract

PURPOSE

To report a favorable effect of intravitreal dexamethasone implantation in Familial Retinal Arterial Macroaneurysms (FRAM).

METHODS

Retrospective Case Report.

RESULTS

A 32-year-old male who presented with bilateral retinal macroaneurysms. Whole Exome Sequencing (WES) revealed a homozygous c.830-1 G > A mutation in Insulin Growth Factor Binding Protein 7 (IGFBP7) gene, confirming the diagnosis FRAM. The left eye was lost in the course of the disease, whereas the right eye developed a persistent macular edema due to multiple leaking retinal arterial macroaneurysms and responded poorly to intravitreal ranibizumab and only partially to intravitreal aflibercept. Intravitreal dexamethasone implantation in the right eye, on the other hand, resulted in marked visual and structural improvement.

CONCLUSION

Intravitreal dexamethasone injections have beneficial anatomical and visual outcomes in FRAM patients with persistent macular edema poorly responsive to intravitreal injections.

摘要

目的

报告玻璃体内注射地塞米松植入物对家族性视网膜动脉大动脉瘤（FRAM）的良好疗效。

方法

回顾性病例报告。

结果

一名32岁男性，双侧视网膜出现大动脉瘤。全外显子组测序（WES）显示胰岛素样生长因子结合蛋白7（IGFBP7）基因存在纯合的c.830-1 G>A突变，确诊为FRAM。左眼在病程中失明，而右眼因多个视网膜动脉大动脉瘤渗漏出现持续性黄斑水肿，对玻璃体内注射雷珠单抗反应不佳，对玻璃体内注射阿柏西普仅部分有效。另一方面，右眼玻璃体内注射地塞米松植入物后，视力和结构有明显改善。