Longitudinal Assessment of Structural and Functional Changes in Rod-cone Dystrophy: A 10-year Follow-up Study

IF 3.2 Q1 OPHTHALMOLOGY

Ophthalmology science Pub Date : 2024-11-06 DOI:10.1016/j.xops.2024.100649

Alexis Ceecee Britten-Jones BOptom (Hons), PhD , Chi D. Luu BOrth (Hons), PhD , Jasleen K. Jolly MSc, DPhil , Carla J. Abbott BOptom, PhD , Penelope J. Allen MBBS, FRANZCO , Tina Lamey PhD , Terri McLaren BSc , Jennifer A. Thompson PhD , John De Roach PhD , Thomas L. Edwards PhD, FRANZCO , Lauren N. Ayton BOptom, PhD

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Abstract

Purpose

Emerging clinical trials for inherited retinal disease (IRD) require an understanding of long-term progression. This longitudinal study investigated the genetic diagnosis and change in retinal structure and function over 10 years in rod-cone dystrophies (RCDs).

Design

Longitudinal observational follow-up study.

Participants

Individuals initially diagnosed with retinitis pigmentosa who underwent baseline assessment between 2010 and 2013.

Methods

Baseline and follow-up assessments included best-corrected visual acuity (VA), Goldmann visual field (GVF) perimetry, spectral-domain OCT imaging, electroretinogram, and panel-based genetic testing. Linear mixed models were used to investigate disease progression and interaction between progression rate and baseline measurement. Interocular symmetry in disease progression was assessed using intraclass correlation coefficients (ICCs).

Main Outcome Measures

Change in VA, GVF area, and ellipsoid zone (EZ) width over 10 years in RCD.

Results

A total of 23 participants attended follow-up (mean age 63 ± 15 years at follow-up; 48% female), with 20 classified as having RCD and 3 reclassified as having cone-rod dystrophy based on genetic diagnosis. At 10-year follow-up, only 60% of RCD participants showed progression of ≥15 letters in either or both eyes, and 40% did not meet the criteria in either eye. Between the eye with poorer versus better VA at baseline, high symmetry in disease progression was observed for GVF area (ICC = 0.87; 95% confidence interval [CI]: 0.68–0.95), and moderate interocular symmetry in disease progression was observed for VA (ICC = 0.50 [95% CI: 0.07–0.77]) and EZ width (ICC = 0.64 [95% CI: 0.25–0.85]). Baseline values influenced progression for VA and percentage change in GVF area, whereas total percentage change in EZ width did not differ across baseline values.

Conclusions

Many individuals with RCD did not have a significant 15-letter decline in VA over a 10-year follow-up, highlighting the challenges of relying on VA as a measure of disease progression. Symmetry between eyes varies, emphasizing a key consideration for selection of outcome measures in IRD clinical trials.

Financial Disclosure(s)

Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.

查看原文本刊更多论文

杆状锥体营养不良的结构和功能变化的纵向评估：一项10年随访研究。

目的：针对遗传性视网膜疾病（IRD）的新兴临床试验需要了解长期进展情况。这项纵向研究调查了杆状视网膜营养不良症（RCDs）的基因诊断以及10年间视网膜结构和功能的变化：设计：纵向观察随访研究：初步诊断为视网膜色素变性的患者，在 2010 年至 2013 年期间接受基线评估：基线和随访评估包括最佳矫正视力（VA）、戈德曼视野（GVF）周边测量、光谱域 OCT 成像、视网膜电图和基于面板的基因检测。线性混合模型用于研究疾病进展以及进展率与基线测量之间的交互作用。使用类内相关系数（ICC）评估疾病进展的眼间对称性：主要结果测量：RCD患者10年间视力、GVF面积和椭圆体区（EZ）宽度的变化：共有 23 名参与者参加了随访（随访时平均年龄为 63 ± 15 岁；48% 为女性），其中 20 人被归类为 RCD 患者，3 人根据基因诊断被重新归类为圆锥杆营养不良症患者。在10年的随访中，只有60%的RCD患者的双眼或单眼视力下降≥15个字母，40%的患者双眼视力均未达到标准。在基线视力较差与较好的双眼之间，GVF面积（ICC = 0.87；95% 置信区间 [CI]：0.68-0.95）的疾病进展具有高度对称性，而视力（ICC = 0.50 [95% CI：0.07-0.77]）和EZ宽度（ICC = 0.64 [95% CI：0.25-0.85]）的疾病进展具有中度眼间对称性。基线值影响VA的进展和GVF面积的百分比变化，而EZ宽度的总百分比变化在不同基线值之间没有差异：许多 RCD 患者在 10 年的随访中视力并未出现 15 个字母的显著下降，这凸显了将视力作为衡量疾病进展的标准所面临的挑战。双眼之间的对称性各不相同，这强调了在IRD临床试验中选择结果测量指标的一个关键考虑因素：专有或商业信息披露见本文末尾的 "脚注和披露"。

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