Patient-reported visual function outcomes agree with visual acuity and ophthalmologist-graded scoring of visual function among patients with long-chain 3-hydroxyacylcoA dehydrogenase deficiency (LCHADD)

IF 1.8 4区医学 Q3 GENETICS & HEREDITY

Molecular Genetics and Metabolism Reports Pub Date : 2024-12-01 DOI:10.1016/j.ymgmr.2024.101171

Ashley N. Gregor , Danielle Black , Nida Wongchaisuwat , Mark E. Pennesi , Melanie B. Gillingham

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引用次数: 0

Abstract

Patients with LCHADD develop progressive chorioretinopathy with vision loss over time. To date, no data on the impact of vision loss on patient vision-specific activities of daily living or quality of life have been reported. We used validated ophthalmic patient-reported outcome measures (PROMs) to compare the impact of patient-perceived visual function to visual acuity and an ophthalmologist-graded stage of LCHADD chorioretinopathy. There was a strong correlation between the patient-reported visual function scores, visual acuity and the ophthalmologist's assigned stage. Adult patients reported lower driving and mental health scores compared to other visual subscales in the VFQ-25. Both children and their parents report a similar impact of their child's eye condition to their quality of life and worry about their vision. These validated PROMs captured functional vision in a group of 40 patients with LCHADD/TFPD that closely correlated with visual acuity and ophthalmologist-graded visual function.

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长链3-羟基酰基酶a脱氢酶缺乏症（LCHADD）患者报告的视功能结果与视力和眼科医生评定的视功能评分一致

随着时间的推移，LCHADD患者会发展为进行性脉络膜视网膜病变，并伴有视力丧失。迄今为止，还没有关于视力丧失对患者日常生活中视力特异性活动或生活质量影响的数据报道。我们使用经过验证的眼科患者报告的结果测量（PROMs）来比较患者感知的视觉功能对视力的影响和眼科医生分级的LCHADD脉络膜视网膜病变分期。患者报告的视觉功能评分、视力和眼科医生指定的阶段之间有很强的相关性。与VFQ-25的其他视觉亚量表相比，成年患者报告的驾驶和心理健康得分较低。孩子和他们的父母都报告说，孩子的眼睛状况对他们的生活质量产生了类似的影响，并担心他们的视力。在一组40名LCHADD/TFPD患者中，这些经过验证的PROMs捕获了与视力和眼科医生分级的视觉功能密切相关的功能性视力。

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

Molecular Genetics and Metabolism Reports Biochemistry, Genetics and Molecular Biology-Endocrinology

CiteScore

4.00

自引率

5.30%

发文量

105

审稿时长

33 days

期刊介绍： Molecular Genetics and Metabolism Reports is an open access journal that publishes molecular and metabolic reports describing investigations that use the tools of biochemistry and molecular biology for studies of normal and diseased states. In addition to original research articles, sequence reports, brief communication reports and letters to the editor are considered.