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近视性黄斑裂孔和脱离后基因治疗非典型 RPE65 视网膜营养不良：一例报告。

Myopic Macular Hole and Detachment after Gene Therapy in Atypical RPE65 Retinal Dystrophy: A Case Report.

机构信息

Eye Clinic, Neuromuscular and Sense Organs Department, Careggi University Hospital, 50134 Florence, Italy.

Department of Neurosciences, Psychology, Drug Research and Child Health (NEUROFARBA), University of Florence, 50121 Florence, Italy.

出版信息

Genes (Basel). 2024 Jul 4;15(7):879. doi: 10.3390/genes15070879.

DOI:10.3390/genes15070879
PMID:39062658
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11276487/
Abstract

PURPOSE

To report a case of macular hole and detachment occurring after the subretinal injection of Voretigene Neparvovec (VN) in a patient affected by atypical RPE65 retinal dystrophy with high myopia and its successful surgical management.

CASE DESCRIPTION

We report a case of a 70-year-old man treated with VN in both eyes. The best corrected visual acuity (BCVA) was 0.7 LogMar in the right eye (RE) and 0.92 LogMar in the left eye (LE). Axial length was 29.60 mm in the RE and 30.28 mm in the LE. Both eyes were pseudophakic. In both eyes, fundus examination revealed high myopia, posterior staphyloma, and extended retinal atrophy areas at the posterior pole, circumscribing a central island of surviving retina. Both eyes were treated with VN subretinal injection, but a full-thickness macular hole and retinal detachment occurred in the LE three weeks after surgery. The patient underwent 23-gauge vitrectomy with internal limiting membrane (ILM) peeling and the inverted flap technique with sulfur hexafluoride (SF6) 20% tamponade. Postoperative follow-up showed that the macular hole was closed and the BCVA was maintained.

CONCLUSIONS

Our experience suggests that patients with atypical RPE65 retinal dystrophy and high myopia undergoing VN subretinal injection require careful management to minimize the risk of macular hole and detachment occurrence and promptly detect and address these potential complications.

摘要

目的

报告一例在患有高度近视的非典型 RPE65 视网膜营养不良患者中接受雷迪帕韦（VN）眼内注射后出现黄斑裂孔和脱离的病例，并对其成功的手术治疗进行讨论。

病例描述

我们报告了一例 70 岁男性患者双眼接受 VN 治疗的病例。最佳矫正视力（BCVA）右眼为 0.7 LogMar，左眼为 0.92 LogMar。右眼眼轴长为 29.60mm，左眼为 30.28mm。双眼均为人工晶状体眼。双眼眼底检查显示高度近视、后葡萄肿和后极部广泛视网膜萎缩，环绕着一个中央残存视网膜岛。双眼均接受 VN 眼内注射治疗，但左眼术后 3 周出现全层黄斑裂孔和视网膜脱离。患者接受了 23 号微创玻璃体切割术，联合内界膜（ILM）剥除和反转瓣技术，并用 20%六氟化硫（SF6）进行眼内填充。术后随访显示黄斑裂孔闭合，BCVA 得以维持。

结论

我们的经验表明，接受 VN 眼内注射治疗的非典型 RPE65 视网膜营养不良和高度近视患者需要谨慎管理，以最大程度降低黄斑裂孔和脱离发生的风险，并及时发现和处理这些潜在的并发症。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/10e3/11276487/d05c42fa8348/genes-15-00879-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/10e3/11276487/afe39af924b2/genes-15-00879-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/10e3/11276487/b2386f3eec15/genes-15-00879-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/10e3/11276487/986f132d29a1/genes-15-00879-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/10e3/11276487/d23075b04331/genes-15-00879-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/10e3/11276487/d05c42fa8348/genes-15-00879-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/10e3/11276487/afe39af924b2/genes-15-00879-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/10e3/11276487/b2386f3eec15/genes-15-00879-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/10e3/11276487/986f132d29a1/genes-15-00879-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/10e3/11276487/d23075b04331/genes-15-00879-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/10e3/11276487/d05c42fa8348/genes-15-00879-g005.jpg

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本文引用的文献

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An Atypical Mild Phenotype of Autosomal Recessive RPE65-Associated Retinitis Pigmentosa.常染色体隐性RPE65相关色素性视网膜炎的一种非典型轻度表型
Klin Monbl Augenheilkd. 2024 Mar;241(3):266-271. doi: 10.1055/a-2264-5480. Epub 2024 Mar 20.
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A Molecular Genetic Analysis of RPE65-Associated Forms of Inherited Retinal Degenerations in the Russian Federation.俄罗斯联邦 RPE65 相关遗传性视网膜退行性变的分子遗传学分析。
Genes (Basel). 2023 Nov 9;14(11):2056. doi: 10.3390/genes14112056.
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Visual function and retinal changes after voretigene neparvovec treatment in children with biallelic RPE65-related inherited retinal dystrophy.
双等位基因 RPE65 相关遗传性视网膜营养不良儿童经 voretigene neparvovec 治疗后的视觉功能和视网膜变化。
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Iatrogenic choroidal neovascularization associated with subretinal gene therapy surgery.与视网膜下基因治疗手术相关的医源性脉络膜新生血管形成。
Am J Ophthalmol Case Rep. 2022 Aug 6;27:101677. doi: 10.1016/j.ajoc.2022.101677. eCollection 2022 Sep.
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Subretinal Injection Techniques for Retinal Disease: A Review.视网膜疾病的视网膜下注射技术：综述
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Subretinal deposits in young patients treated with voretigene neparvovec-rzyl for RPE65-mediated retinal dystrophy.接受 voretigene neparvovec-rzyl 治疗的 RPE65 相关视网膜营养不良的年轻患者的视网膜下沉积物。
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Inflammation after Voretigene Neparvovec Administration in Patients with RPE65-Related Retinal Dystrophy.接受 Voretigene Neparvovec 治疗的 RPE65 相关视网膜营养不良患者的炎症反应。
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Inner Retinal Layers Swelling During Subretinal Voretigene Neparvovec Delivery.视网膜下注射voretigene neparvovec期间的视网膜内层肿胀
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