常染色体隐性 Bestrophinopathy 中的视盘旁保留。
Peripapillary Sparing in Autosomal Recessive Bestrophinopathy.
机构信息
Department of Ophthalmology, University of Bonn, Bonn, Germany; Center for Rare Diseases Bonn (ZSEB), University of Bonn, Bonn, Germany.
Department of Ophthalmology, University of Bonn, Bonn, Germany; Center for Rare Diseases Bonn (ZSEB), University of Bonn, Bonn, Germany; Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, and Nuffield Laboratory of Ophthalmology, Department of Clinical Neurosciences, University of Oxford, Oxford, United Kingdom.
出版信息
Ophthalmol Retina. 2020 May;4(5):523-529. doi: 10.1016/j.oret.2019.12.008. Epub 2020 Mar 5.
PURPOSE
To demonstrate that peripapillary sparing on autofluorescence images is a characteristic feature of autosomal recessive bestrophinopathy (ARB).
DESIGN
Retrospective, cross-sectional case series and review of previous published cases.
PARTICIPANTS
Twelve patients with ARB.
METHODS
Ophthalmic assessment included best-corrected visual acuity testing, electrophysiologic examinations, and multimodal retinal imaging. Retinal imaging included OCT, blue-light autofluorescence imaging, fundus photography, and widefield pseudocolor and autofluorescence fundus imaging.
MAIN OUTCOME MEASURES
Presence of peripapillary sparing on fundus autofluorescence images.
RESULTS
Relatively normal-appearing peripapillary autofluorescence was identified in all patients, independent of the disease stage or presence of widespread changes on autofluorescence widefield images. OCT images of the peripapillary region revealed mild structural abnormalities, including a thinned outer nuclear layer and intraretinal or subretinal fluid. A review of previously published cases confirmed peripapillary sparing as consistent feature on fundus autofluorescence images. Genetic analysis revealed 10 previously reported mutations, 1 novel missense (c.83T>A; p.Ile28Asn) and 2 novel truncating (c.658C>T; p.Gln220* and c.1370C>G; p.Ser457*) variants in BEST1.
CONCLUSIONS
In ARB patients, peripapillary sparing is a consistent feature on fundus autofluorescence images, whereas the same region is less preserved on OCT images.
目的
证明在自发荧光图像上的视盘旁保留是常染色体隐性 Bestrophinopathy（ARB）的一个特征。
设计
回顾性、横断面病例系列和对以前发表病例的回顾。
参与者
12 名 ARB 患者。
方法
眼科评估包括最佳矫正视力测试、电生理检查和多模态视网膜成像。视网膜成像包括 OCT、蓝光自发荧光成像、眼底照相、宽视野假彩色和自发荧光眼底成像。
主要观察指标
眼底自发荧光图像上视盘旁保留的存在。
结果
所有患者均存在相对正常的视盘旁自发荧光，与疾病阶段或自发荧光宽视野图像上广泛变化的存在无关。视盘旁区域的 OCT 图像显示出轻微的结构异常，包括外核层变薄和视网膜内或视网膜下液。对以前发表的病例的回顾证实了视盘旁保留是眼底自发荧光图像上的一个一致特征。基因分析显示 BEST1 中有 10 个先前报道的突变、1 个新的错义突变（c.83T>A；p.Ile28Asn）和 2 个新的截断突变（c.658C>T；p.Gln220和 c.1370C>G；p.Ser457）。
结论
在 ARB 患者中，眼底自发荧光图像上的视盘旁保留是一个一致的特征，而同一区域在 OCT 图像上的保留较少。
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