Ophthalmology Volume 130, Number 7, July 2023
Voretigene neparvovec-rzyl（VN）是一種用於雙偶基RPE65基因變異引起的遺傳性視網膜疾病的基因增強治療。儘管VN已經證明了視覺功能的改善，但一些患者在治療後出現脈絡膜視網膜萎縮。本研究旨在確定與萎縮發展相關的因素，並評估全視暗閾值（full-field scotopic threshold, FST）改善與萎縮之間的關係。該研究分析了兩個大型基因治療中心的數據。患有脈絡膜視網膜萎縮的患者主要是學齡期到青年期。在1個月時，萎縮組的FST改善顯著高於無萎縮組，並在1年時仍然保持顯著性。研究結果表明，FST改善與VN相關脈絡膜視網膜萎縮的發展之間存在著密切的相關性。進一步的研究需要了解其潛在機制，並優化基因治療以減少萎縮的風險。
Title: Correlation Between Full-Field Scotopic Threshold Improvement and Chorioretinal Atrophy Following Voretigene Neparvovec-rzyl Treatment
Abstract: Voretigene neparvovec-rzyl (VN) is a gene augmentation therapy for inherited retinal diseases caused by biallelic RPE65 gene variants. Although VN has demonstrated functional visual improvement, some patients develop chorioretinal atrophy following treatment. This study aimed to identify factors associated with atrophy development and assess the relationship between full-field scotopic threshold (FST) improvement and atrophy. Data from two large gene therapy centers were analyzed. Patients with chorioretinal atrophy were predominantly of school age to young adulthood. The FST improvement was significantly higher in the atrophy group compared to the no atrophy group at 1 month and remained significant at 1 year. The findings suggest a strong correlation between FST improvement and the development of VN-related chorioretinal atrophy. Further investigation is required to understand the underlying mechanisms and optimize gene therapies to minimize the risk of atrophy.