Ramtohul Prithvi, Cicinelli Maria Vittoria, Chen Fred K, Oh Daniel J, Freilich Benjamin D, Singer Michael A, Hartley Matthew J, Biswas Jyotirmay, Boulanger Etienne, Bae Kunho, Lim Hun Young, Sujirakul Tharikarn, Gascon Pierre, Blinder Kevin J, Fardeau Christine, Pockar Sasa, Androudi Sofia, Nakashizuka Hiroyuki, Kitagawa Yorihisa, Shinojima Ari, Miserocchi Elisabetta, Freund K Bailey
Ophthalmology Department, Hopital Nord, Aix-Marseille University, Marseille, France.
School of Medicine, Vita-Salute San Raffaele University, Milan, Italy; Department of Ophthalmology, IRCCS San Raffaele Scientific Institute, Milan, Italy.
Ophthalmol Retina. 2025 May 26. doi: 10.1016/j.oret.2025.05.027.
To describe the clinical features, multimodal imaging findings, natural history, and treatment outcomes of acute outer retinopathy (AOR), which represents an expanded spectrum of acute annular outer retinopathy.
Retrospective, observational, longitudinal, multicenter case series.
Twenty-three patients (15 female; 8 male) with a mean age of 41.8 ± 18.6 years (range: 14-86 years) and a mean follow-up duration of 3.7 ± 1.5 years (range: 1-12 years).
Clinical characteristics, multimodal imaging findings, laboratory evaluations, genetic testing, natural history, therapeutic management, and outcomes were reviewed and analyzed.
Specific multimodal imaging signatures of AOR were identified, including findings from ophthalmoscopy, fundus autofluorescence (FAF), fluorescein angiography, indocyanine green angiography (ICGA), and OCT. Humphrey visual field testing, full-field electroretinography (ERG), and multifocal ERG were analyzed. Baseline features and the natural course of the disease were delineated.
Thirty-eight eyes from 23 patients were analyzed. Presenting symptoms included photopsia (87%), blurred vision (57%), and scotoma (57%). On ophthalmoscopy, AOR was acutely characterized by yellow-grayish outer retinal lesions corresponding to hyperautofluorescent changes on FAF and the angular sign of Henle fiber layer hyperreflectivity (ASHH) on OCT. Fundus autofluorescence imaging revealed ring-like hyperautofluorescent lesions surrounding the optic disc in 18% of eyes. Additional lesion patterns on FAF included perivenular (53%), sectoral (16%), and spot-like distributions (13%). Fluorescein angiography and ICGA findings were mostly unremarkable. Lesion progression primarily occurred within the initial weeks after presentation and stabilized in size beyond this period in the majority of eyes. Over time, affected areas progressed to outer retinal atrophy with pigmentary changes. Foveal sparing was observed in 68% of the eyes. None of the therapeutic interventions appeared effective in halting the progression to complete outer retinal atrophy or preventing lesion enlargement.
Acute outer retinopathy is characterized by early photoreceptor disruption, evidenced by ASHH on OCT, leading to rapid outer retinal atrophy and subsequent degeneration of the retinal pigment epithelium within the damaged zones. Although distinct patterns of lesion distribution were observed, their consistent features on multimodal imaging support their inclusion within a unified disease spectrum termed AOR.
FINANCIAL DISCLOSURE(S): Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.
描述急性外层视网膜病变（AOR）的临床特征、多模态影像学表现、自然病程及治疗效果，AOR是急性环形外层视网膜病变的一种扩展类型。
回顾性、观察性、纵向、多中心病例系列研究。
23例患者（15例女性；8例男性），平均年龄41.8±18.6岁（范围：14 - 86岁），平均随访时间3.7±1.5年（范围：1 - 12年）。
对临床特征、多模态影像学表现、实验室评估、基因检测、自然病程、治疗管理及治疗效果进行回顾和分析。
确定AOR的特定多模态影像学特征，包括检眼镜检查、眼底自发荧光（FAF）、荧光素血管造影、吲哚菁绿血管造影（ICGA）及光学相干断层扫描（OCT）的结果。分析Humphrey视野检查、全视野视网膜电图（ERG）及多焦ERG。描绘疾病的基线特征和自然病程。
分析了23例患者的38只眼。主要症状包括闪光感（87%）、视力模糊（57%）和暗点（57%）。检眼镜检查显示，AOR的急性特征为黄灰色外层视网膜病变，对应于FAF上的高自发荧光改变及OCT上的Henle纤维层高反射角征（ASHH）。眼底自发荧光成像显示，18%的患眼中视盘周围有环状高自发荧光病变。FAF上的其他病变模式包括静脉周围（53%）、扇形（16%）和点状分布（13%）。荧光素血管造影和ICGA结果大多无明显异常。病变进展主要发生在出现后的最初几周内，大多数患眼中在此之后病变大小趋于稳定。随着时间推移，受累区域进展为外层视网膜萎缩并伴有色素改变。68%的患眼中观察到黄斑保留。没有一种治疗干预措施在阻止进展为完全性外层视网膜萎缩或防止病变扩大方面显示出有效。
急性外层视网膜病变的特征是早期光感受器破坏，OCT上的ASHH可证实这一点，导致外层视网膜迅速萎缩以及受损区域内视网膜色素上皮的后续退变。尽管观察到病变分布的不同模式，但它们在多模态影像学上的一致特征支持将其纳入称为AOR的统一疾病谱中。
本文末尾的脚注和披露中可能存在专有或商业披露信息。
