ush2a视网膜病变的显微镜和光学相干断层扫描的自然史：一项结构-功能关联研究。

IF 4.1 1区医学 Q1 OPHTHALMOLOGY

American Journal of Ophthalmology Pub Date : 2025-05-03 DOI:10.1016/j.ajo.2025.04.034

Ajoy Vincent , Wendi Liang , Maureen G. Maguire , Jacque L. Duncan , Allison R. Ayala , Paul S. Bernstein , Joseph Carroll , Janet K. Cheetham , Todd A. Durham , Sina Farsiu , Carel B. Hoyng , Rachel M. Huckfeldt , Glenn J. Jaffe , Jessica Loo , Mark E. Pennesi , José-Alain Sahel , Mandeep S. Singh , Zane Z. Zemborain , David G. Birch , Eleonora M. Lad

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引用次数: 0

摘要

目的探讨ush2a相关性视网膜变性（RUSH2A）进展率研究中光学相干断层扫描（OCT）和介观显微测量（MP）参数的自然变化历程。设计多中心、国际化、前瞻性、纵向的自然历史研究。方法：研究人群：105名临床诊断为Usher综合征或常染色体隐性视网膜色素变性的USH2A双等位致病变异患者，在4年内每年进行一次检测。主要观察指标(S) 10月椭球区（EZ）面积和中心子场厚度（CST）， MP上预定功能过渡点（MSFTP）的平均灵敏度（MS）和平均点向灵敏度（MSFTP）。结果102例和94例患者符合OCT和MP分析标准。基线时平均EZ面积为3.9±5.3 mm2, 4年后降至3.3±4.1 mm2 [ROC变化率（-0.18 mm2/年）]。平均CST在4年内从249.7±35.6 μ m下降到244.1±39.3 μ m （-2.14 μ m /年）。平均mpms从6.0±5.1 dB（基线）下降到4.5±4.2（4年）（-0.39 dB/年）。随着时间的推移，MSFTP显著降低[17.9 dB（基线）至10.8 dB（4年）]。值得注意的是，在4年时，46%的研究眼睛的MSFTP有显著下降（≥7dB）。结论本研究建立了ush2a视网膜病变关键结构和功能参数的自然历史。MSFTP是一种新颖、可靠的参数，随着时间的推移显示出有临床意义的变化，是临床试验中监测治疗效果的一种有前景的工具。

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Natural History of Microperimetry and Optical Coherence Tomography in USH2A-Retinopathy: A Structure-Function Association Study

PURPOSE

To describe the natural history of optical coherence tomography (OCT) and mesopic microperimetry (MP) parameters in the Rate of Progression of USH2A-related Retinal Degeneration (RUSH2A) study.

DESIGN

Multicenter, international, prospective, longitudinal natural history study.

METHODS

Study Population: 105 participants with biallelic disease-causing variants in USH2A with a clinical diagnosis of Usher Syndrome or autosomal recessive retinitis pigmentosa who underwent annual testing over 4 years.

MAIN OUTCOME MEASURE(S)

Ellipsoid zone (EZ) area and central sub-field thickness (CST) on OCT. Mean sensitivity (MS) and mean pointwise sensitivity at predefined functional transition points (MS_FTP) on MP.

RESULTS

A total of 101 and 94 participants met criteria for OCT and MP analysis, respectively. The average EZ area was 3.9 ± 5.3 mm² at baseline which decreased to 3.3 ± 4.1 mm² at 4 years (rate of change [ROC] [−0.18 mm²/year]). The average CST decreased from 249.7 ± 35.6 to 244.1 ± 39.3 microns over 4 years (−2.14 microns/year). The average MP MS declined from 6.0 ± 5.1 dB (baseline) to 4.5 ± 4.2 (4 years) (−0.39 dB/year). The MS_FTP significantly decreased over time (17.9 dB [baseline] to 10.8 dB [4 years]). Notably, at 4 years, there was a meaningful decrease (≥ 7dB) in MS_FTP in 46% of study eyes.

CONCLUSIONS

This study establishes the natural history of key structural and functional parameters in USH2A-retinopathy. The MS_FTP is a novel, robust parameter that showed clinically meaningful change over time and is a promising tool to monitor treatment efficacy in clinical trials.

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来源期刊

American Journal of Ophthalmology 医学-眼科学

CiteScore

9.20

自引率

7.10%

发文量

406

审稿时长

36 days

期刊介绍： The American Journal of Ophthalmology is a peer-reviewed, scientific publication that welcomes the submission of original, previously unpublished manuscripts directed to ophthalmologists and visual science specialists describing clinical investigations, clinical observations, and clinically relevant laboratory investigations. Published monthly since 1884, the full text of the American Journal of Ophthalmology and supplementary material are also presented online at www.AJO.com and on ScienceDirect. The American Journal of Ophthalmology publishes Full-Length Articles, Perspectives, Editorials, Correspondences, Books Reports and Announcements. Brief Reports and Case Reports are no longer published. We recommend submitting Brief Reports and Case Reports to our companion publication, the American Journal of Ophthalmology Case Reports. Manuscripts are accepted with the understanding that they have not been and will not be published elsewhere substantially in any format, and that there are no ethical problems with the content or data collection. Authors may be requested to produce the data upon which the manuscript is based and to answer expeditiously any questions about the manuscript or its authors.