Purpose

To investigate the development and progression of retinal pigment epithelial and outer retinal atrophy (RORA) secondary to maternally inherited diabetes and deafness (MIDD).

Design

Retrospective observational case series.

Methods

Thirty-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.

Results

The 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.

Conclusions

The 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.

中文翻译：

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与继发于母亲遗传性糖尿病和耳聋的RORA的发展和进展相关的结构特征。

目的

调查继发于母亲遗传性糖尿病和耳聋（MIDD）的视网膜色素上皮和视网膜外部萎缩（RORA）的发展和进展。

设计

回顾性观察病例系列。

方法

包括18例经遗传学证明的MIDD和串行光学相干断层扫描（OCT）图像的36眼（年龄范围为22.4-71.6岁）。作为诊断和分期萎缩的建议参考标准，对OCT图像进行了纵向评估，并分析了RORA的存在和先兆。RORA被定义为以下区域：（1）超透射，（2）视网膜色素上皮破坏，（3）感光细胞变性和（4）没有其他视网膜色素上皮撕裂迹象。

结果

大多数患者在中心凹周围的圆形区域中发现了RORA区域，偏心率在5°和15°之间。在观察时间内（范围为0.5-8.5年），可以发现从RORA早期疾病阶段到RORA结束阶段一致的OCT特征序列的证据，首先是椭球区和视网膜下沉积的丧失，然后是外部的丧失OCT信号过度传递到脉络膜中，限制了膜和视网膜色素上皮的丢失，并导致以低反射楔形为边界的外核层的丢失。视网膜外表似乎在RORA合并区域发展。

结论

使用OCT图像可以在MIDD患者中追踪RORA的发生和发展，从而可以定义新的替代标记。与年龄相关性黄斑变性中OCT特征的相似之处在于线粒体功能障碍与发病有关，支持MIDD中概念验证研究的广泛益处。