ABCA4 相关斯特格病的超广角自荧光。
ULTRAWIDEFIELD AUTOFLUORESENCE IN ABCA4 STARGARDT DISEASE.
机构信息
Stein Eye Institute, University of California, Los Angeles, California.
Doheny Eye Institute, University of California, Los Angeles, California.
出版信息
Retina. 2018 Feb;38(2):403-415. doi: 10.1097/IAE.0000000000001567.
PURPOSE
To report the ultrawidefield fundus autofluorescence (UWF-FAF) patterns in ABC4A Stargardt disease.
METHODS
A retrospective cohort study of patients with a clinical diagnosis of Stargardt disease, confirmed ABCA4 genotype, and ultrawidefield fundus autofluorescence imaging using an Optos P200Tx. Four independent graders evaluated the images. Ultrawidefield fundus autofluorescence images were evaluated for the presence of posterior pole and peripheral findings, and were classified into one of three types (Type I: lesions confined to the macula with no peripheral findings; Type II: macular atrophy with flecks only in the periphery; Type III: macular atrophy and varying degrees of peripheral atrophy).
RESULTS
Ultrawidefield fundus autofluorescence was performed on 58 eyes of 29 patients. Reviews of images revealed the presence of peripheral (outside the 55° view of standard nonwidefield FAF imaging) alterations on UWF-FAF in 76% of eyes. Overall, the UWF-FAF pattern was classified as Type I in 24% eyes (14/58), Type II in 24% (14/58), and Type III in 52% (30/58). The most common genetic mutations were c.2588G>C (6/29 patients, 20.7%), and c.5882G>A (5/29 patients, 17.2%).
CONCLUSION
Ultrawidefield fundus autofluorescence reveals peripheral changes in the majority of patients with Stargardt disease. Peripheral FAF changes may have implications for diagnosis, prognosis, and management of individual patients with Stargardt disease.
目的
报告 ABC4A 型斯塔加特病的超广角眼底自发荧光（UWF-FAF）模式。
方法
对经临床诊断为斯塔加特病、确诊 ABCA4 基因型且使用 Optos P200Tx 进行超广角眼底自发荧光成像的患者进行回顾性队列研究。四位独立的评分员评估图像。对超广角眼底自发荧光图像进行评估，以确定后极和周边病变，并将其分为三种类型之一（I 型：病变局限于黄斑，无周边病变；II 型：黄斑萎缩，仅在外周有斑点；III 型：黄斑萎缩和不同程度的周边萎缩）。
结果
对 29 例患者的 58 只眼进行了超广角眼底自发荧光检查。对图像的评估显示，76%的眼在 UWF-FAF 上存在周边（标准非超广角 FAF 成像 55°视野之外）改变。总体而言，UWF-FAF 模式分类为 I 型的眼占 24%（14/58），II 型占 24%（14/58），III 型占 52%（30/58）。最常见的基因突变是 c.2588G>C（29 例患者中的 6 例，20.7%）和 c.5882G>A（29 例患者中的 5 例，17.2%）。
结论
超广角眼底自发荧光显示大多数斯塔加特病患者存在周边改变。周边 FAF 改变可能对个体斯塔加特病患者的诊断、预后和治疗具有重要意义。
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