Moorfields Eye Hospital, London, United Kingdom; UCL Institute of Ophthalmology, University College London, London, United Kingdom.
Moorfields Eye Hospital, London, United Kingdom; UCL Institute of Ophthalmology, University College London, London, United Kingdom; Eye Center, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Ophthalmology. 2023 Nov;130(11):1182-1190. doi: 10.1016/j.ophtha.2023.06.010. Epub 2023 Jun 17.
To explore fundus autofluorescence (FAF) imaging as an alternative to electroretinography as a noninvasive, quick, and readily interpretable method to predict disease progression in Stargardt disease (STGD).
Retrospective case series of patients who attended Moorfields Eye Hospital (London, United Kingdom).
Patients with STGD who met the following criteria were included: (1) biallelic disease-causing variants in ABCA4, (2) electroretinography testing performed in house with an unequivocal electroretinography group classification, and (3) ultrawidefield (UWF) FAF imaging performed up to 2 years before or after the electroretinography.
Patients were divided into 3 electroretinography groups based on retinal function and 3 FAF groups according to the extent of hypoautofluorescence and retinal background appearance. Fundus autofluorescence images of 30° and 55° were reviewed subsequently.
Electroretinography and FAF concordance and its association with baseline visual acuity (VA) and genetics.
Two hundred thirty-four patients were included in the cohort. One hundred seventy patients (73%) were in electroretinography and FAF groups of the same severity, 33 (14%) were in a milder FAF than electroretinography group, and 31 (13%) were in a more severe FAF than electroretinography group. Children < 10 years of age (n = 23) showed the lowest electroretinography and FAF concordance at 57% (9 of the 10 with discordant electroretinography and FAF showed milder FAF than electroretinography), and adults with adult onset showed the highest (80%). In 97% and 98% of patients, 30° and 55° FAF imaging, respectively, matched with the group defined by UWF FAF.
We demonstrated that FAF imaging is an effective method to determine the extent of retinal involvement and thereby inform prognostication by comparing FAF with the current gold standard of electroretinography. In 80% of patients in our large molecularly proven cohort, we were able to predict if the disease was confined to the macula or also affected the peripheral retina. Children assessed at a young age, with at least 1 null variant, early disease onset, poor initial VA, or a combination thereof may have wider retinal involvement than predicted by FAF alone, may progress to a more severe FAF phenotype over time, or both.
FINANCIAL DISCLOSURE(S): Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.
探索眼底自发荧光（FAF）成像作为一种替代视网膜电图的方法，用于预测斯塔加特病（STGD）的疾病进展，这种方法具有非侵入性、快速和易于解读的特点。
在 Moorfields 眼科医院（英国伦敦）进行的回顾性病例系列研究。
符合以下标准的 STGD 患者入选：（1）ABCA4 双等位基因致病变异，（2）在本院进行视网膜电图检查，具有明确的视网膜电图分组分类，（3）在进行视网膜电图检查前或后 2 年内进行超广角（UWF）FAF 成像。
根据视网膜功能将患者分为 3 个视网膜电图组，根据低荧光强度和视网膜背景外观将患者分为 3 个 FAF 组。随后对 30°和 55°的 FAF 图像进行了回顾性分析。
视网膜电图和 FAF 的一致性及其与基线视力（VA）和遗传学的关系。
本队列共纳入 234 例患者。170 例（73%）患者的视网膜电图和 FAF 处于相同严重程度的分组，33 例（14%）患者的 FAF 比视网膜电图组更轻，31 例（13%）患者的 FAF 比视网膜电图组更重。<10 岁的儿童（n=23）的视网膜电图和 FAF 一致性最低，为 57%（10 例中有 9 例视网膜电图和 FAF 不一致，且这些患者的 FAF 比视网膜电图组更轻），而成年起病的成年人最高（80%）。在 97%和 98%的患者中，30°和 55°的 FAF 成像分别与 UWF FAF 定义的组相匹配。
我们通过将 FAF 与目前视网膜电图的金标准进行比较，证明了 FAF 成像在确定视网膜受累程度方面是一种有效的方法，从而可以进行预后判断。在我们这个大型分子证实的队列中，有 80%的患者能够预测疾病是否局限于黄斑区，还是也累及周边视网膜。在年幼时接受评估的儿童，至少有 1 个无义变异，疾病早期发病，初始视力差，或这些因素的组合，其视网膜受累可能比 FAF 单独预测的更广泛，随着时间的推移，可能会进展为更严重的 FAF 表型，或者两者兼有。
本文末尾的注释和披露中可能会发现专有或商业披露信息。
