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遗传性视网膜疾病中的眼底自发荧光:综述

Fundus Autofluorescence in Inherited Retinal Disease: A Review.

作者信息

Oh Jin Kyun, Moussa Omar, Lam Byron L, Sengillo Jesse D

机构信息

Department of Ophthalmology, Vagelos College of Physicians and Surgeons, Columbia University Irving Medical Center, New York, NY 10032, USA.

Department of Ophthalmology, Bascom Palmer Eye Institute, School of Medicine, University of Miami Miller, Miami, FL 33136, USA.

出版信息

Cells. 2025 Jul 16;14(14):1092. doi: 10.3390/cells14141092.

DOI:10.3390/cells14141092
PMID:40710345
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12293359/
Abstract

Fundus autofluorescence (FAF) is a non-invasive retinal imaging technique that helps visualize naturally occurring fluorophores, such as lipofuscin, and provides valuable insight into retinal diseases-particularly inherited retinal diseases (IRDs). FAF is especially useful in detecting subclinical or early-stage IRDs and in monitoring disease progression over time. In Stargardt disease, areas of decreased autofluorescence correlate with disease progression and have been proposed as a biomarker for future clinical trials. FAF can also help differentiate Stargardt disease from other macular dystrophies. In retinitis pigmentosa, hyperautofluorescent rings are a common feature on FAF and serve as an important marker for disease monitoring, especially as changes align with those seen on other imaging modalities. FAF is valuable in tracking progression of choroideremia and may help identify disease carrier status. FAF has also improved the characterization of mitochondrial retinopathies such as maternally inherited diabetes and deafness. As a rapid and widely accessible imaging modality, FAF plays a critical role in both diagnosis and longitudinal care of patients with IRDs.

摘要

眼底自发荧光(FAF)是一种非侵入性视网膜成像技术,有助于可视化天然存在的荧光团,如脂褐素,并为视网膜疾病,尤其是遗传性视网膜疾病(IRD)提供有价值的见解。FAF在检测亚临床或早期IRD以及监测疾病随时间的进展方面特别有用。在斯塔加特病中,自发荧光降低的区域与疾病进展相关,并已被提议作为未来临床试验的生物标志物。FAF还可以帮助区分斯塔加特病与其他黄斑营养不良。在色素性视网膜炎中,高自发荧光环是FAF上的常见特征,是疾病监测的重要标志物,尤其是当变化与其他成像方式所见的变化一致时。FAF在追踪脉络膜视网膜炎的进展方面很有价值,可能有助于确定疾病携带者状态。FAF还改善了对线粒体视网膜病变(如母系遗传的糖尿病和耳聋)的特征描述。作为一种快速且广泛可用的成像方式,FAF在IRD患者的诊断和长期护理中都起着关键作用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9541/12293359/6364d83380a7/cells-14-01092-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9541/12293359/d35df8f9d5d1/cells-14-01092-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9541/12293359/ee867b41528e/cells-14-01092-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9541/12293359/31c3e066bbc9/cells-14-01092-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9541/12293359/6364d83380a7/cells-14-01092-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9541/12293359/d35df8f9d5d1/cells-14-01092-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9541/12293359/ee867b41528e/cells-14-01092-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9541/12293359/31c3e066bbc9/cells-14-01092-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9541/12293359/6364d83380a7/cells-14-01092-g004.jpg

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本文引用的文献

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Ophthalmol Sci. 2025 May 6;5(5):100823. doi: 10.1016/j.xops.2025.100823. eCollection 2025 Sep-Oct.
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Ellipsoid Zone Loss as an Outcome Measure in MAK-Associated Retinitis Pigmentosa.椭球区丢失作为常染色体显性遗传性视网膜色素变性相关的一种结局指标
Am J Ophthalmol. 2025 Jun 25;278:282-291. doi: 10.1016/j.ajo.2025.06.031.
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Near-Infrared Autofluorescence: Early Detection of Retinal Pigment Epithelial Alterations in Inherited Retinal Dystrophies.
近红外自发荧光:遗传性视网膜营养不良中视网膜色素上皮改变的早期检测
J Clin Med. 2024 Nov 15;13(22):6886. doi: 10.3390/jcm13226886.
4
Retinal Patterns and the Role of Autofluorescence in Choroideremia.视网膜模式与脉络膜黑色素瘤中自发荧光的作用。
Genes (Basel). 2024 Nov 14;15(11):1471. doi: 10.3390/genes15111471.
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XOLARIS: A 24-Month, Prospective, Natural History Study of 201 Participants with -Associated X-Linked Retinitis Pigmentosa.XOLARIS:一项针对201名与X连锁视网膜色素变性相关患者的为期24个月的前瞻性自然史研究。
Ophthalmol Sci. 2024 Aug 13;5(1):100595. doi: 10.1016/j.xops.2024.100595. eCollection 2025 Jan-Feb.
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