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在X链接的视网膜疾病中测试圆对比敏感性:洞察基因型,性别和疾病严重程度

Sena A Gocuk^1,2,3, Lauren N Ayton^1,2,3, Thomas L Edwards^2,3

¹Department of Optometry and Vision Sciences, The University of Melbourne, Parkville, Victoria, Australia.

Ophthalmic & physiological optics : the journal of the British College of Ophthalmic Opticians (Optometrists)

|October 23, 2025

概括

圆功能障碍存在于X链接的遗传视网膜疾病 (IRD),影响男性和女性携带者. ColorDx CCT测试可以检测亚临床问题,并监测携带者疾病的进展.

科学领域:

眼科医生眼科眼科
遗传学是一个遗传学.
视觉科学视觉科学视觉科学

背景情况:

与X相关的遗传视网膜疾病 (IRD),如与RPGR相关的视网膜色素炎 (RPGR) 和胆血症 (CHM),导致逐渐的视力丧失.
圆功能障碍是这些疾病的关键特征,影响色彩视觉和视觉敏.
早期发现和监测功能障碍对于管理IRD和评估治疗干预措施至关重要.

研究的目的:

通过Konan ColorDx圆对比度值 (CCT) 测试,评估RPGR相关的IRD和胆红素血症 (CHM) 患者的圆对比度敏感性 (CS).
探索圆CS与视觉功能的其他临床测量,包括最佳校正视敏度 (BCVA) 和低亮度视敏度 (LLVA) 之间的关系.
评估受影响的男性,女性携带者和健康对照中的形CS,以了解疾病的表现和携带者状态.

主要方法:

八十五名参与者被录取,包括受影响的男性,女性携带者和健康的对照.
使用Konan ColorDx CCT测试测量了圆对比度的灵敏度.
临床评估包括BCVA,LLVA, fundus-tracked周边测量和基金自光成像 (FAF).
线性混合模型被用来分析基于诊断和性别的 CS 的差异,以年龄和BCVA进行调整.

主要成果:

与对照和载体相比,RPGR和CHM的受影响男性表现出显著降低的L,M和S敏感性.
雌性RPGR载体在所有型中显著降低了敏感性,而雌性CHM载体与对照没有显著差异.
与CHM相比,与RPGR相关的疾病中M-敏感性特别降低.
降低的BCVA和LLVA在受影响的男性和女性携带者中与下 CS有很强的相关性.

结论:

圆功能障碍在X链接IRD的男性和女性携带者中都明显,根据基因型和疾病严重程度对圆亚型的影响有所不同.
在与RPGR相关的疾病中,M敏感性特别脆弱.
ColorDx CCT测试是检测亚临床功能障碍和监测女性携带者疾病进展的宝贵工具,可能作为功能生物标志物.

关键词:

科南 (Konan) 中央公路交通运输局胆固醇血症是什么胆固醇血症圆的圆是一个圆.摄影受体的光学感应器视网膜炎的颜色化

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