Talib Mays, Koetsier Leonoor S, MacLaren Robert E, Boon Camiel J F
Department of Ophthalmology, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.
Nuffield Laboratory of Ophthalmology, University of Oxford and Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 9DU, UK.
Genes (Basel). 2017 Jul 21;8(7):187. doi: 10.3390/genes8070187.
The development of a macular hole is relatively common in retinal dystrophies eligible for gene therapy such as choroideremia. However, the subretinal delivery of gene therapy requires an uninterrupted retina to allow dispersion of the viral vector. A macular hole may thus hinder effective gene therapy. Little is known about the outcome of macular hole surgery and its possible beneficial and/or adverse effects on retinal function in patients with choroideremia. We describe a case of a unilateral full-thickness macular hole (FTMH) in a 45year-old choroideremia patient (c.1349_1349+2dup mutation in gene) and its management. Pars plana vitrectomy with internal limiting membrane (ILM) peeling and 20% SF₆ gas tamponade was performed, and subsequent FTMH closure was confirmed at 4 weeks, 3 months and 5 months postoperatively. No postoperative adverse events occurred, and fixation stability improved on microperimetry from respectively 11% and 44% of fixation points located within a 1° and 2° radius, preoperatively, to 94% and 100% postoperatively. This case underlines that pars plana vitrectomy with ILM peeling and gas tamponade can successfully close a FTMH in choroideremia patients, with subsequent structural and functional improvement. Macular hole closure may be important for patients to be eligible for future submacular gene therapy.
黄斑裂孔的形成在适合基因治疗的视网膜营养不良（如无脉络膜症）中相对常见。然而，基因治疗的视网膜下给药需要视网膜完整，以利于病毒载体的扩散。黄斑裂孔因此可能会阻碍有效的基因治疗。对于无脉络膜症患者，黄斑裂孔手术的结果及其对视网膜功能可能的有益和/或不良影响知之甚少。我们描述了一例45岁无脉络膜症患者（基因存在c.1349_1349 + 2dup突变）单侧全层黄斑裂孔（FTMH）及其治疗情况。进行了玻璃体视网膜手术，包括剥除内界膜（ILM）并注入20%的六氟化硫（SF₆）气体进行填塞，术后4周、3个月和5个月确认FTMH闭合。未发生术后不良事件，微视野检查显示，术前分别位于1°和2°半径范围内的固定点分别为11%和44%，术后提高到了94%和100%，固视稳定性得到改善。该病例强调，玻璃体视网膜手术联合ILM剥除和气体填塞能够成功闭合无脉络膜症患者的FTMH，并带来后续的结构和功能改善。黄斑裂孔闭合对于患者未来接受黄斑下基因治疗可能具有重要意义。
