Seventeen-year follow-up of mitochondrial myopathy and ataxia in a Chinese family: case reports and literature review.

IF 2.6 4区医学 Q2 OPHTHALMOLOGY

Documenta Ophthalmologica Pub Date : 2025-06-21 DOI:10.1007/s10633-025-10037-y

Yue Liu, Hui Li, Xing Wei, Yamei Li, Yunyu Zhou, Xuan Zou, Ruifang Sui

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引用次数: 0

Abstract

Purpose: To investigate the retinal phenotype and genetic features of a Chinese family with a diagnosis of mitochondrial myopathy and ataxia (MMYAT).

Methods: We conducted a 17-year follow-up of two sisters from a Chinese family and reviewed their medical and family histories. The retinal phenotype was assessed using a multi-modal imaging technique, which includes ultra-widefield (UWF) scanning laser ophthalmoscope (SLO), UWF fundus autofluorescence (FAF), and optical coherence tomography (OCT). Whole exome sequencing (WES) was performed to detect pathogenic variants. Sanger sequencing validation and segregation analysis were further performed for the confirmation of genetic results. A literature review was conducted, analysing the data from 11 published articles encompassing 33 confirmed cases of MMYAT up to 2025.

Results: Ophthalmic multimodal imaging examination revealed typical characteristics of retinal dystrophy in both patients, including binocular widespread salt-and-pepper pigmentation, macular atrophy, a mottled pattern of hypoautofluorescence, and degeneration of the ellipsoid zone. A comprehensive review of the patients' histories identified muscle weakness, ataxia, cerebellar atrophy, mild cognitive impairment, and developmental delay. Two compound heterozygous variants of the mitochondrial distribution and morphology regulator 1 (MSTO1) gene (NM_018116.3), c.971C > T (p.T324I) and c.1108G > A (p.A370P), were detected using WES. A comprehensive literature review was also conducted to gain an overview of the various symptoms associated with MMYAT.

Conclusion: Our study provides a comprehensive ophthalmic characterization of MMYAT, indicating that retinal dystrophy is a key characteristic of this disease. Multimodal imaging of the retina is beneficial for diagnosing MMYAT-associated retinal dystrophy. Increased awareness and comprehensive ophthalmic examination are crucial for obtaining an early and accurate diagnosis.

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一个中国家庭线粒体肌病和共济失调的17年随访：病例报告和文献复习。

目的：探讨一个中国线粒体肌病和共济失调（MMYAT）家族的视网膜表型和遗传特征。方法：我们对来自一个中国家庭的两姐妹进行了17年的随访，并回顾了她们的病史和家族史。采用多模态成像技术评估视网膜表型，包括超宽视场（UWF）扫描激光检眼镜（SLO）、超宽视场眼底自身荧光（FAF）和光学相干断层扫描（OCT）。采用全外显子组测序（WES）检测致病变异。进一步进行Sanger测序验证和分离分析以确认遗传结果。进行了文献综述，分析了11篇已发表文章的数据，其中包括截至2025年的33例MMYAT确诊病例。结果：眼科多模态影像学检查显示两例患者视网膜营养不良的典型特征，包括双眼广泛的盐和胡椒色素沉着，黄斑萎缩，斑点状低自身荧光，椭球区变性。对患者病史的全面回顾确定了肌肉无力、共济失调、小脑萎缩、轻度认知障碍和发育迟缓。用WES检测到线粒体分布与形态调节因子1 （MSTO1）基因（NM_018116.3）的两个复合杂合变异体，c.971C > T （p.T324I）和c.1108G > A （p.A370P）。还进行了全面的文献综述，以获得与MMYAT相关的各种症状的概述。结论：我们的研究提供了MMYAT的全面眼科特征，表明视网膜营养不良是该疾病的关键特征。视网膜多模态成像有助于诊断mmyat相关的视网膜营养不良。提高认识和全面的眼科检查是获得早期和准确诊断的关键。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Documenta Ophthalmologica 医学-眼科学

CiteScore

3.50

自引率

21.40%

发文量

审稿时长

>12 weeks

期刊介绍： Documenta Ophthalmologica is an official publication of the International Society for Clinical Electrophysiology of Vision. The purpose of the journal is to promote the understanding and application of clinical electrophysiology of vision. Documenta Ophthalmologica will publish reviews, research articles, technical notes, brief reports and case studies which inform the readers about basic and clinical sciences related to visual electrodiagnosis and means to improve diagnosis and clinical management of patients using visual electrophysiology. Studies may involve animals or humans. In either case appropriate care must be taken to follow the Declaration of Helsinki for human subject or appropriate humane standards of animal care (e.g., the ARVO standards on Animal Care and Use).