ABSTRACT

Purpose

To describe the presence of outer retinal tubulations (ORTs) in a patient diagnosed with maternally inherited diabetes and deafness (MIDD) – associated macular dystrophy.

Methods

The patient underwent clinical examination assessing best-corrected visual acuity (BCVA), anterior segment evaluation and fundoscopy followed by optical coherence tomography (OCT). Audiological evaluation was also performed for the accurate diagnosis of MIDD.

Results

A 57-year-old diabetic patient with mildly affected BCVA, macular dystrophy and severe neurosensory hearing loss was diagnosed with MIDD. Examination with OCT revealed the central loss of photoreceptors and the presence of ORTs in close proximity to the fovea. Regular follow-up seven months after her initial visit showed no alterations in the clinical and imaging status of the patient. In the context of family screening, the patient’s sister presented with the diagnosis of pre-diabetes and a moderate sensorineural hearing loss, while fundus examination and OCT revealed no significant pathology. In this report, we present ORTs in association with MIDD.

Conclusions

ORTs are a non-specific finding that can be found in MIDD and other retinal dystrophies. Taking under consideration the rarity and the difficulty in diagnosing this entity, our data could serve as an addition to the existing knowledge in terms of clinical and imaging manifestations of MIDD.

中文翻译：

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母体遗传性糖尿病和耳聋-相关性黄斑营养不良的视网膜外引流管：病例报告。

摘要

目的

描述患有诊断为母源性糖尿病和耳聋（MIDD）的相关性黄斑营养不良的患者存在外部视网膜肾小管（ORT）。

方法

该患者接受临床检查，评估最佳矫正视力（BCVA），前节评估和眼底镜检查，然后进行光学相干断层扫描（OCT）。还进行了听觉评估以准确诊断MIDD。

结果

一名57岁的BCVA，黄斑营养不良和严重的神经感觉性听力减退的糖尿病患者被诊断为MIDD。OCT的检查显示了感光细胞的中心丢失和靠近中央凹的ORT的存在。初次就诊后七个月的定期随访显示，患者的临床和影像学状况没有改变。在进行家庭筛查的情况下，患者的姐姐被诊断出患有糖尿病前期和中度的感音神经性听力下降，而眼底检查和OCT均未发现明显的病理。在此报告中，我们提出了与MIDD相关的ORT。

结论

ORT是非特异性发现，可以在MIDD和其他视网膜营养不良中发现。考虑到诊断该实体的罕见性和难度，我们的数据可以作为MIDD临床和影像表现方面现有知识的补充。