Structural Features Associated with the Development and Progression of RORA Secondary to Maternally Inherited Diabetes and Deafness.
Structural Features Associated with the Development and Progression of RORA Secondary to Maternally Inherited Diabetes and Deafness.
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与继发于母系遗传糖尿病和耳聋的 RORA 发生和进展相关的结构特征
DOI：
10.1016/j.ajo.2020.05.023
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发表时间：
2020
影响因子：
4.2
通讯作者：
Tufail A
中科院分区：
文献类型：
--
作者：
Müller PL;Maloca P;Webster A;Egan C;Tufail A
目的探讨继发于母系遗传性糖尿病和耳聋(MID)的视网膜色素上皮和视网膜外萎缩(RORA)的发生和发展。设计回顾观察病例系列。方法对18例36只眼(年龄22.4~71.6岁)经遗传证实的MIDD和系列光学相干断层扫描(OCT)图像进行分析。作为提出的诊断和分期萎缩的参考标准，对OCT图像进行纵向评估和分析，以确定RORA的存在和前兆。RORA定义为：(1)过度透光，(2)视网膜色素上皮破裂，(3)光感受器变性，(4)无其他视网膜色素上皮撕裂征象。在观察时间范围内(0.5-8.5年)，可以找到从疾病早期到晚期RORA的一致的OCT特征的证据，从椭圆形带和视网膜下沉积开始，随后是外界膜的丢失和视网膜色素上皮的丢失，OCT信号过度传输到脉络膜，导致外核层的丢失，外核层被低反射楔形物包围。结论利用OCT图像可以追踪MIDD患者RORA的发生发展过程，为寻找新的替代标志物提供了可能。与老年性黄斑变性的OCT特征相似，线粒体功能障碍参与了MIDD的发病机制，支持MIDD的概念验证研究的广泛益处。
PurposeTo investigate the development and progression of retinal pigment epithelial and outer retinal atrophy (RORA) secondary to maternally inherited diabetes and deafness (MIDD).DesignRetrospective observational case series.MethodsThirty-six eyes of 18 patients (age range, 22.4-71.6 years) with genetically proven MIDD and serial optical coherence tomography (OCT) images were included. As proposed reference standard to diagnose and stage atrophy, OCT images were longitudinally evaluated and analyzed for presence and precursors of RORA. RORA was defined as an area of (1) hypertransmission, (2) disruption of the retinal pigment epithelium, (3) photoreceptor degeneration, and (4) absence of other signs of a retinal pigment epithelial tear.ResultsThe majority of patients revealed areas of RORA in a circular area around the fovea of between 5° and 15° eccentricity. Over the observation time (range, 0.5-8.5 years), evidence for a consistent sequence of OCT features from earlier disease stages to the end stage of RORA could be found, starting with loss of ellipsoid zone and subretinal deposits, followed by loss of external limiting membrane and loss of retinal pigment epithelium with hypertransmission of OCT signal into the choroid, and leading to loss of the outer nuclear layer bordered by hyporeflective wedges. Outer retinal tabulations seemed to develop in regions of coalescent areas of RORA.ConclusionsThe development and progression of RORA could be tracked in MIDD patients using OCT images, allowing potential definition of novel surrogate markers. Similarities to OCT features in age-related macular degeneration, where mitochondrial dysfunction has been implicated in the pathogenesis, support wide-ranging benefits from proof-of-concept studies in MIDD.
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影响因子：
168.9
作者：
REARDON, W;ROSS, RJM;TREMBATH, RC
通讯作者：
TREMBATH, RC
影响因子：
4.1
作者：
Finger, Robert P.;Fimmers, Rolf;Scholl, Hendrik P. N.
通讯作者：
Scholl, Hendrik P. N.
影响因子：
13.7
作者：
Holz, Frank G.;Strauss, Erich C.;Campagne, Menno van Lookeren
通讯作者：
Campagne, Menno van Lookeren
影响因子：
13.7
作者：
Holz, Frank G.;Sadda, SriniVas R.;Schmitz-Valckenberg, Steffen
通讯作者：
Schmitz-Valckenberg, Steffen
DOI：
10.1097/iae.0000000000002726
发表时间：
2020-12-01
影响因子：
3.3
作者：
Muller, Philipp L.;Dysli, Chantal;Herrmann, Philipp
通讯作者：
Herrmann, Philipp