Multimodal analysis in symptomatic MIDD-associated retinopathy. A case report and literature review.

GMS ophthalmology cases Pub Date : 2023-12-12 eCollection Date: 2023-01-01 DOI:10.3205/oc000231
Katarzyna Chwiejczak, Daniel Byles, Paul Gerry, Hirut Von Lany, Anastasia Tasiopoulou, Andrew Hattersley
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Abstract

Purpose: To present results of contemporary multimodal ophthalmic imaging in a case of maternally inherited diabetes and deafness (MIDD) and a literature review of MIDD.

Methods: 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.

Results: 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.

Conclusions: 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.

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有症状的 MIDD 相关视网膜病变的多模态分析。病例报告和文献综述。
目的:介绍一例母系遗传性糖尿病和耳聋(MIDD)患者的现代多模态眼科成像结果,以及有关 MIDD 的文献综述:报告了一例 47 岁女性患者的病例,她患有糖尿病、严重的胰岛素抵抗、家族性脂肪代谢障碍、耳聋以及日益严重的视力问题。患者接受了全面的眼科检查,包括最佳矫正视力(BCVA,LogMAR)、眼底检查和影像学检查:光学相干断层扫描(OCT)、OCT 血管造影(OCT-A)、眼底自动荧光(FAF)、视野(HVF)10-2、电生理学(EP)和基因检测。此外,还查阅了相关文献:右眼视力为 0.06 LogMAR,左眼视力为 0.1 LogMAR。眼底检查发现眼球萎缩(AT)和色素性改变,但未发现糖尿病视网膜病变。高密度视网膜病变证实了相应的缺陷。成像和诊断测试显示有以下异常:FAF:AT区域自发荧光不足,黄斑和毛细血管周围出现斑驳;OCT:AT区域视网膜外层和视网膜色素上皮(RPE)衰减;OCT-A:深部毛细血管丛和绒毛膜变薄;EP:全场视网膜电图(ERG)、30赫兹闪烁和单锥闪反应异常;多焦点ERG:反应减弱;基因检测:基因检测:线粒体基因组第 3243 位发生 A-G 转换突变,是 MIDD 的典型特征。一年后,OCT神经节细胞分析显示其厚度减少:结论:患有色素性视网膜病变的糖尿病患者应考虑进行基因检测。成像研究和诊断测试显示,患者的视网膜结构和功能发生了改变,这些改变仅限于黄斑部,且呈进行性。
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