Correlation between quality of vision and clinical and structural parameters in patients with Autosomal Dominant Optic Atrophy.

IF 2.8 3区 医学 Q1 OPHTHALMOLOGY
Eye Pub Date : 2025-03-26 DOI:10.1038/s41433-025-03762-w
Anna Camós-Carreras, Marc Figueras-Roca, Salut Albà-Arbalat, Rafel Alcubierre, Marta Saint-Gerons, Bernardo Sánchez-Dalmau
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引用次数: 0

Abstract

Background: Autosomal Dominant Optic Atrophy (ADOA) is a hereditary condition caused by mutations in the OPA1 gene, leading to progressive degeneration of the optic nerve fibres and subsequent visual decline. Despite advances in understanding its genetic and clinical aspects, the impact of ADOA on vision-related quality of life (VRQoL) remains poorly characterized.

Subjects/methods: This cross-sectional study aimed to evaluate VRQoL in 27 patients with molecularly confirmed ADOA using the 25-item National Eye Institute Visual Function Questionnaire (NEI-VFQ-25) and its 10-item Neuro-Ophthalmic Supplement. Clinical and structural parameters, including visual acuity, colour vision, macular volume, and ganglion cell complex thickness, were assessed to explore their association with VRQoL scores.

Results: Significant reduction in VRQoL, with mean composite scores of 74.1 (NEI-VFQ-25) and 69.9 (neuro-ophthalmic supplement) was observed. General vision, near activities, and distance activities were the most affected domains, while colour vision surprisingly scored higher than expected. Multivariate analysis revealed that best-corrected visual acuity (BCVA) to be independently associated with VFQ-25 composite (ß coefficient -66.46; p < 0.001), VFQ-25 neuroophthalmology (ß coefficient -57.13; p < 0.001) and 4 of the 12 subscales. Additionally, macular vessel density correlated with specific subscales such as dependency and colour vision.

Conclusions: These findings highlight the significant functional burden of ADOA on patients and underscore the importance of clinical parameters such as BCVA and peripapillary retinal nerve fibre layer in assessing the quality of life. The study suggests that preserving visual acuity should be a primary therapeutic target in ADOA management, as well as a key for monitoring and guiding future therapeutic interventions.

常染色体显性视萎缩患者视力质量与临床及结构参数的关系。
背景:常染色体显性视神经萎缩(ADOA)是一种由OPA1基因突变引起的遗传性疾病,导致视神经纤维进行性变性和随后的视力下降。尽管对其遗传和临床方面的了解有所进展,但对ADOA对视力相关生活质量(VRQoL)的影响仍然知之甚少。对象/方法:本横断面研究旨在通过美国国家眼科研究所视觉功能问卷(NEI-VFQ-25)及其神经眼科补充问卷(neuroophthalmic Supplement)评估27例经分子证实的ADOA患者的VRQoL。评估临床和结构参数,包括视力、色觉、黄斑体积和神经节细胞复合体厚度,以探讨它们与VRQoL评分的关系。结果:VRQoL显著降低,平均综合评分为74.1 (NEI-VFQ-25)和69.9(神经-眼科补充)。一般视觉、近距离活动和远距离活动是受影响最大的领域,而色彩视觉的得分出乎意料地高于预期。多因素分析显示,最佳矫正视力(BCVA)与VFQ-25复合指数独立相关(ß系数-66.46;结论:这些发现突出了ADOA对患者的显著功能负担,并强调了BCVA和乳头周围视网膜神经纤维层等临床参数在评估生活质量中的重要性。本研究提示,保持视力应是ADOA治疗的首要目标,也是监测和指导未来治疗干预的关键。
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来源期刊
Eye
Eye 医学-眼科学
CiteScore
6.40
自引率
5.10%
发文量
481
审稿时长
3-6 weeks
期刊介绍: Eye seeks to provide the international practising ophthalmologist with high quality articles, of academic rigour, on the latest global clinical and laboratory based research. Its core aim is to advance the science and practice of ophthalmology with the latest clinical- and scientific-based research. Whilst principally aimed at the practising clinician, the journal contains material of interest to a wider readership including optometrists, orthoptists, other health care professionals and research workers in all aspects of the field of visual science worldwide. Eye is the official journal of The Royal College of Ophthalmologists. Eye encourages the submission of original articles covering all aspects of ophthalmology including: external eye disease; oculo-plastic surgery; orbital and lacrimal disease; ocular surface and corneal disorders; paediatric ophthalmology and strabismus; glaucoma; medical and surgical retina; neuro-ophthalmology; cataract and refractive surgery; ocular oncology; ophthalmic pathology; ophthalmic genetics.
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