Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania "Luigi Vanvitelli", Naples, Italy.
Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania "Luigi Vanvitelli", Naples, Italy.
Ophthalmol Retina. 2024 Jul;8(7):688-698. doi: 10.1016/j.oret.2024.01.021. Epub 2024 Feb 1.
To assess the efficacy of voretigene neparvovec (VN) treatment by objective fixation stability and chromatic pupillometry testing in clinical practice.
Retrospective cohort study with longitudinal follow-up.
Twelve patients (aged 7-34 years) with RPE65-related inherited retinal dystrophies were treated at the same center with VN in both eyes.
Patients treated at the same center with VN were evaluated over a 12-month posttreatment follow-up by subjective and objective tests. Furthermore, patients treated with VN who developed atrophy were compared with those who did not.
Best-corrected visual acuity (BCVA), full-field stimulus threshold test (FST), semiautomated kinetic visual field (SKVF), microperimetry, and chromatic pupillometry over a 12-month follow-up.
Significant improvements of BCVA (P < 0.001), SKVF (P < 0.05), and FST (P < 0.001) were already observed 45 days after treatment and were maintained at the 12-month timepoint. Fixation stability, assessed by microperimetry, improved significantly (P < 0.05) after treatment. Chromatic pupillometry showed significant improvements (P < 0.05) at the 6- and 12-month timepoints. The increase in maximum pupillary constriction significantly (P < 0.001) correlated with higher retinal sensitivity in FST. Four patients developed multifocal retinal atrophy in both eyes, detected at the 6-month timepoint, but this atrophy was not generally associated with worse visual function outcomes.
This study explores objective outcomes in order to demonstrate the efficacy of VN treatment in addition to the tests normally performed in clinical practice. Our findings show a significant improvement of retinal function both in subjective assessments, such as BCVA, SKVF, and FST, and in objective measurements of fixation stability and maximum pupillary constriction. Moreover, the significant correlation between maximum pupillary constriction and light sensitivity thresholds corroborates the introduction of chromatic pupillometry as an objective test to better assess treatment outcomes in patients with inherited retinal dystrophies.
FINANCIAL DISCLOSURE(S): Proprietary or commercial disclosure may be found after the references in the Footnotes and Disclosures at the end of this article.
通过客观固视稳定性和色觉瞳孔测量测试评估 voretigene neparvovec（VN）治疗的疗效。
具有纵向随访的回顾性队列研究。
12 名（年龄 7-34 岁）患有 RPE65 相关遗传性视网膜营养不良的患者，在同一中心接受 VN 双眼治疗。
在治疗后 12 个月的随访中，通过主观和客观测试评估在同一中心接受 VN 治疗的患者。此外，还比较了接受 VN 治疗后出现萎缩的患者和未出现萎缩的患者。
最佳矫正视力（BCVA）、全视野刺激阈值测试（FST）、半自动动态视觉场（SKVF）、微视野和色觉瞳孔测量在 12 个月的随访中。
治疗后 45 天即观察到 BCVA（P < 0.001）、SKVF（P < 0.05）和 FST（P < 0.001）显著改善，并且在 12 个月时保持稳定。微视野评估的固视稳定性治疗后显著改善（P < 0.05）。色觉瞳孔测量在 6 个月和 12 个月时均有显著改善（P < 0.05）。最大瞳孔收缩的增加与 FST 中视网膜敏感度的增加显著相关（P < 0.001）。4 名患者在双眼均出现多发性视网膜萎缩，在 6 个月时发现，但这种萎缩通常与视力功能结果较差无关。
本研究探索了客观结果，以证明 VN 治疗的疗效，除了通常在临床实践中进行的测试外。我们的研究结果表明，视网膜功能在主观评估（如 BCVA、SKVF 和 FST）和固视稳定性和最大瞳孔收缩的客观测量中均有显著改善。此外，最大瞳孔收缩与光敏感度阈值之间的显著相关性证实了色觉瞳孔测量作为一种客观测试的引入，可以更好地评估遗传性视网膜营养不良患者的治疗结果。
在本文末尾的脚注和披露中可以找到专利或商业披露信息。
