AlZaid Abdulrahman, Magliyah Moustafa, Schatz Patrik, Al-Dhibi Hassan
Vitreoretinal Division, King Khaled Eye Specialist Hospital , Riyadh, Saudi Arabia.
Department of Ophthalmology, Clinical Sciences, Skane County University Hospital, Lund University , Lund, Sweden.
Ophthalmic Genet. 2020 Aug;41(4):394-396. doi: 10.1080/13816810.2020.1766088. Epub 2020 May 19.
To report a favorable effect of intravitreal dexamethasone implantation in Familial Retinal Arterial Macroaneurysms (FRAM).
Retrospective Case Report.
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.
Intravitreal dexamethasone injections have beneficial anatomical and visual outcomes in FRAM patients with persistent macular edema poorly responsive to intravitreal injections.
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。
回顾性病例报告。
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。
对于玻璃体内注射治疗反应不佳的持续性黄斑水肿FRAM患者，玻璃体内注射地塞米松可产生有益的解剖学和视觉效果。
