■介绍当代多模式眼科成像在母系遗传性糖尿病和耳聋(MIDD)病例中的结果以及MIDD的文献综述。
■一例47岁女性糖尿病患者,严重的胰岛素抵抗,家族性脂肪代谢紊乱,据报道,耳聋和视力问题增加。做了全面的眼科检查,包括最佳矫正视力(BCVA,LogMAR),基金副本,和成像研究:光学相干断层扫描(OCT),OCT血管造影(OCT-A),眼底自反射(FAF),视野(HVF)10-2,进行电生理学(EP)和基因检测。审查了关于该主题的现有文献。
■BCVA右眼为0.06LogMAR,左眼为0.1LogMAR。Funduscopy显示萎缩(AT)和色素变化,但无糖尿病性视网膜病变。HVF确认了相应的缺陷。影像学和诊断测试表明以下异常:FAF:AT区域的低自发荧光和黄斑和乳头周围区域的斑驳外观;OCT:AT中视网膜外层和视网膜色素上皮(RPE)的衰减;OCT-A:深毛细血管丛和脉络膜毛细血管的变薄;EP:全场视网膜电图(ERG)异常,30Hz闪烁和单锥闪烁反应;多病灶ERG:反应减少;遗传检测:线粒体基因组3243位的A-to-G转换突变,典型的MIDD。一年后,OCT神经节细胞分析显示厚度损失。
■糖尿病合并色素性视网膜病变患者应考虑进行基因检测。影像学研究和诊断测试显示视网膜结构和功能改变,局限于黄斑,本质上是渐进的。
UNASSIGNED: To present results of contemporary multimodal ophthalmic imaging in a case of maternally inherited diabetes and deafness (MIDD) and a literature review of MIDD.
UNASSIGNED: A case of a 47-year-old female with diabetes mellitus, severe insulin resistance, familial lipodystrohy, deafness and increasing problems with vision is reported. A full ophthalmic examination was done, including best corrected visual acuity (BCVA, LogMAR), funduscopy, and imaging studies: optical coherence tomography (OCT), OCT angiography (OCT-A), fundus autofloresence (FAF), visual fields (HVF) 10-2 , electrophysiology (EP) and genetic testing were performed. Literature available on the topic was reviewed.
UNASSIGNED: BCVA was 0.06 LogMAR in the right eye and 0.1 LogMAR in the left. Funduscopy revealed atrophy (AT) and pigmentary changes but no diabetic retinopathy. HVF confirmed corresponding defects. The imaging and diagnostic tests showed the following abnormalities: FAF: hypoautofluoresence in areas of AT and mottled appearance in the macular and peripapillary area; OCT: attenuation of outer retinal layers and retinal pigment epithelium (RPE) in the AT; OCT-A: thinning of the deep capillary plexus and choriocapillaris; EP: abnormalities on full field electroretinogram (ERG), 30 Hz flicker and single cone flash response; multifocal ERG: reduced responses; genetic testing: A-to-G transition mutation at position 3243 of the mitochondrial genome, typical for MIDD. After one year OCT ganglion cell analysis showed loss of thickness.
UNASSIGNED: Genetic testing should be considered in diabetic patients with pigmentary retinopathy. Imaging studies and diagnostic testing showed structural and functional retinal changes, confined to the macula and progressive in nature.