两切口无玻璃体切除的视网膜下注射治疗Bietti结晶样视网膜营养不良

Two-port subretinal injection without vitrectomy for the treatment of Bietti crystalline dystrophy

目的观察两切口无玻璃体切除的视网膜下注射(SRI)治疗Bietti结晶样视网膜营养不良(BCD)的安全性。方法探索性临床研究。2023年2~5月于厦门大学附属厦门眼科中心检查确诊并接受SRI腺相关病毒载体转基因药物治疗的BCD患者6例6只眼纳入研究。其中,男性2例2只眼,女性4例4只眼;年龄34~60岁。患眼均行两切口无玻璃体切除SRI腺相关病毒载体转基因药物治疗。25G玻璃体切割管件做2个巩膜切口,分别用于置入光纤和38G SRI针。进入玻璃体前,先行前房穿刺引流房水降低眼压。硅油注入模式下,38G注射套管穿透视网膜到达视网膜下腔,玻璃体切割机脚踏控制注射速度,缓慢注入基因治疗药物,形成视网膜下泡状脱离区。注射完毕时手指触诊进行眼压评估,若偏高通过按压角膜切口行房水引流直至眼压正常。SRI后随访时间9~12个月。随访时采用SRI前相同设备和方法行相关检查。结果6例患者6只眼眼底均可见视网膜色素上皮和脉络膜萎缩,伴或不伴视网膜黄白色细小颗粒样结晶沉积;临床分期均为Ⅲ期。SRI均顺利完成;手术时长9~14 min。手术中未见玻璃体脱出、视网膜出血或视网膜裂孔。套管针头无阻塞,拔出时无玻璃体脱出。SRI后24 h,所有患眼视网膜隆起泡完全吸收,视网膜复位;SRI后9个月时,患眼均无角膜后沉着,未见前房、玻璃体细胞等炎症反应,无高眼压、白内障、视网膜裂孔等并发症发生。结论两切口无玻璃体切除SRI治疗BCD安全,且可缩短手术时间。

Objective To observe the safety of 2-port non-vitrectomized subretinal injection(SRI)for the treatment of Bietti crystalline dystrophy(BCD).Methods A exploratory clinical study.From February to May 2023,6 BCD patients with 6 eyes who were confirmed by examination in Xiamen Eye Center of Xiamen University and were treated with SRI adeno-associated virus vector transgenic drugs were included in the study.Among them,2 males had 2 eyes and 4 females had 4 eyes.Age were 34-60 years old.The study eye underwent adeno associated virus gene therapy via 2-port non-vitrectomized SRI.Two scleral ports were created using 25G vitrectomy trocar to place the light pipe and injection cannula.Anterior chamber paracentesis was performed to lower intraocular pressure.Under the silicone oil infusion mode of the vitrectomy machine,a 38G injection cannula penetrated the retina to reach the subretinal space.The injection speed was controlled by the foot pedal of the vitrectomy machine,and the drug was slowly injected into the subretinal space to create a subretinal bleb.if intra-ocular pressure assessed by finger palpation was high at the end of injection,drainage of the aqueous humor can be made by compressing the cornea incision until the intraocular pressure was normal.Patients were followed for 9-12 months and be examined using the same equipment and methods as before.Results Retinal pigment epithelium and choroidal atrophy were observed in all 6 eyes of 6 patients were graded as stageⅢby the fundus examination revealing atrophy of retinal pigmented epithelium and choroid,with or without yellow-white crystals and/or complex lipid.The range were operation time 9-14 minutes.No vitreous prolapse,retinal hemorrhage,or retinal tear was observed during surgery.After 24 hours,optical coherence tomogrophy examination showed absorption of subretinal fluid and retinal reattachment.None of the six patients showed corneal keratic precipitates,anterior chamber cells,vitreous cells,inflammation,high intraocular pressure,or retinal tear within the 9-month follow-up.Conclusion Subretinal injection without vitrectomy using two ports is a safe and feasible alternative for adult gene therapy,and it shortens the surgical time.