Assessment of retinal arteriolar tortuosity in patients with COL4A1 or COL4A2 mutations.

IF 2.3 2区医学 Q2 OPHTHALMOLOGY

Retina-The Journal of Retinal and Vitreous Diseases Pub Date : 2024-10-09 DOI:10.1097/IAE.0000000000004290

Valérie Krivosic, Paul Goupillou, Frederic Buffon-Porcher, Hélène Morel, Stéphanie Guey, Ramin Tadayoni, Elisabeth Tournier Lasserve, Hugues Chabriat, Alain Gaudric

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Abstract

Purpose: Qualitative and quantitative analyzes of retinal arteriolar tortuosity (RAT) in patients with COL4A1 and COL4A2 mutations to identify a tortuosity index (TI) threshold for detecting increased RAT.

Methods: Fifty-two eyes of 28 patients were included. Group 1 included eyes with a normal arteriolar pattern (n=19, 37%), group 2 included eyes with moderately increased arteriolar tortuosity (n=13, 25%), and group 3 included eyes with typical abnormal arteriolar tortuosity (n=20, 38%). The TI was measured by calculating the arc-to-chord ratio of arterioles and venules in the posterior pole.

Results: The mean arteriolar TI was significantly higher in all groups with a COL4A1/A2 mutation compared to controls: 1.19 ± 0.03, 1.24 ±0.05, and 1.57 ± 0.23 in groups 1, 2 and 3, respectively, vs. 1.12 ± 0.01 (all p <0.0001). The TI threshold was 1.13, with a sensitivity of 98.1% and a specificity of 100%. The area under the curve was 0.995.

Conclusion: Measuring the arteriolar TI allowed diagnosing increased RAT in all eyes with a COL4A1/A2 mutation, whereas the subjective assessment suspected or detected it in only 62% of eyes. In adult patients with cerebral microangiopathy, detecting increased RAT, even when mild, directs the diagnosis towards COL4A1/A2-related cerebroretinal angiopathy.

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评估 COL4A1 或 COL4A2 突变患者的视网膜动脉迂曲情况。

目的：对COL4A1和COL4A2突变患者视网膜动脉迂曲度（RAT）进行定性和定量分析，以确定检测RAT增加的迂曲指数（TI）阈值：方法：纳入28名患者的52只眼睛。第一组包括动脉形态正常的眼睛（19 只，占 37%），第二组包括动脉迂曲中度增加的眼睛（13 只，占 25%），第三组包括动脉迂曲典型异常的眼睛（20 只，占 38%）。TI是通过计算后极动脉和静脉的弧弦比来测量的：结果：与对照组相比，所有COL4A1/A2突变组的平均动脉TI都明显较高：第 1、2 和 3 组的平均动脉 TI 分别为 1.19 ± 0.03、1.24 ± 0.05 和 1.57 ± 0.23，而对照组为 1.12 ± 0.01（均为 p）：测量动脉TI可诊断出所有COL4A1/A2突变眼的RAT增加，而主观评估仅怀疑或检测出62%的眼RAT增加。在患有脑微血管病的成年患者中，检测到RAT增高，即使是轻度的，也能将诊断指向COL4A1/A2相关的脑视网膜血管病变。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Retina-The Journal of Retinal and Vitreous Diseases 医学-眼科学

CiteScore

5.70

自引率

9.10%

发文量

554

审稿时长

3-6 weeks

期刊介绍： RETINA® focuses exclusively on the growing specialty of vitreoretinal disorders. The Journal provides current information on diagnostic and therapeutic techniques. Its highly specialized and informative, peer-reviewed articles are easily applicable to clinical practice. In addition to regular reports from clinical and basic science investigators, RETINA® publishes special features including periodic review articles on pertinent topics, special articles dealing with surgical and other therapeutic techniques, and abstract cards. Issues are abundantly illustrated in vivid full color. Published 12 times per year, RETINA® is truly a “must have” publication for anyone connected to this field.