Salari Mehri, Rezaei Kamran, Haghighatzadeh Mahsa, Mirabedini Maryam, Etemadifar Masoud
Men's Health and Reproductive Health Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Student Research Committee, School of Medicine, Shahid Beheshti University of Medical Science, Tehran, Iran.
Cerebellum. 2025 Jun 17;24(4):116. doi: 10.1007/s12311-025-01869-0.
Oculomotor apraxia (OMA), the clinical manifestation of impaired voluntary initiation of saccadic eye movements, has long been associated with several disorders and genetic mutations in the literature.
The present study aims to review all the disorders and genetic mutations associated with OMA reported in the literature.
PubMed, MEDLINE, Scopus, EMBASE, and Web of Science databases were systematically searched for related keywords, and related publications from January 2000 to January 2024 were reviewed.
All the disorders and genetic mutations presented with OMA in the literature were reported. Clinical manifestations of the congenital disorders- particularly members of autosomal recessive cerebellar ataxias- including Joubert syndrome, ataxia with oculomotor apraxia, ataxia-telangiectasia, and other disorders were discussed, Additionally, the pathophysiology of the genetic mutations in the anatomical pathway of OMA is discussed in this paper.
Most of the cases with OMA present this sign early in their disease course; thus, evaluating the possible differential diagnoses can guide clinicians to a more accurate diagnosis. Understanding the spectrum of disorders and clinical manifestations with OMA also provides valuable insights into further clinic-pathological and genetic evaluations of this clinical manifestation.
眼球运动失用症（OMA）是眼球扫视运动自主启动受损的临床表现，长期以来在文献中一直与多种疾病和基因突变相关。
本研究旨在回顾文献中报道的与OMA相关的所有疾病和基因突变。
系统检索PubMed、MEDLINE、Scopus、EMBASE和Web of Science数据库中的相关关键词，并对2000年1月至2024年1月的相关出版物进行综述。
报道了文献中所有出现OMA的疾病和基因突变。讨论了先天性疾病的临床表现，特别是常染色体隐性遗传性小脑共济失调的成员，包括Joubert综合征、伴有眼球运动失用症的共济失调、共济失调毛细血管扩张症和其他疾病。此外，本文还讨论了OMA解剖学通路中基因突变的病理生理学。
大多数OMA病例在病程早期就出现此症状；因此，评估可能的鉴别诊断可指导临床医生做出更准确的诊断。了解OMA相关疾病谱和临床表现也为该临床表现的进一步临床病理和基因评估提供了有价值的见解。
