沙特阿拉伯早发性近视和视网膜脱离相关的遗传学与临床发现

Genetics and Clinical Findings Associated with Early-Onset Myopia and Retinal Detachment in Saudi Arabia.

作者信息

AlEissa Mariam M, Alhawsawi Abrar A, Milibari Doaa, Schatz Patrik, AlBalawi Hani B, Alali Naif M, Abu-Amero Khaled K, Hameed Syed, Magliyah Moustafa S

机构信息

Research Department, King Khaled Eye Specialist Hospital, Riyadh 11462, Saudi Arabia.

College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia.

出版信息

Genes (Basel). 2025 Jul 21;16(7):848. doi: 10.3390/genes16070848.

Abstract

Autosomal recessive types of both syndromic and non-syndromic inherited myopia are common in Saudi Arabia (SA) because many people marry their relatives. The prevalence of syndromic myopathies in SA, like Stickler syndrome (SS), Knobloch syndrome (KS), and Marfan syndrome (MFS), further complicates the disease spectrum. The causative genes linked to the Knobloch, Marfan, and Pierson syndromes are , , and , respectively. Additionally, we found recessive types of non-syndromic high myopia that have a high chance of causing retinal detachment, like those linked to and . In these cases, regular evaluation and early intervention, including prophylactic laser photocoagulation and pars plana vitrectomy, may improve the outcome. Advancements in genetic testing for diagnosis and prevention accelerate detection, facilitate early interventions, and provide genetic counseling. The utilization of artificial intelligence (AI), machine learning (ML), and the advancement of gene therapy offer promising avenues for personalized care. We place a high value on using genetic knowledge to create a national screening program and patient registry aimed at understanding the national burden of myopia, knowing that we have a high rate of consanguinity, which reflects pathogenic homozygous alleles and founder mutations. This initiative will incorporate genetic counseling and leverage innovative technologies, which are crucial for disease management, early identification, and prevention in Saudi Arabia's healthcare system.

摘要

由于许多人近亲结婚,常染色体隐性遗传的综合征型和非综合征型遗传性近视在沙特阿拉伯很常见。沙特阿拉伯综合征型肌病的患病率,如斯特克勒综合征(SS)、诺布洛赫综合征(KS)和马凡综合征(MFS),使疾病谱更加复杂。与诺布洛赫综合征、马凡综合征和皮尔逊综合征相关的致病基因分别是 、 和 。此外,我们发现了非综合征型高度近视的隐性类型,这些类型很有可能导致视网膜脱离,比如与 和 相关的类型。在这些情况下,定期评估和早期干预,包括预防性激光光凝和玻璃体切除术,可能会改善治疗效果。基因检测在诊断和预防方面的进展加快了检测速度,便于早期干预,并提供遗传咨询。人工智能(AI)、机器学习(ML)的应用以及基因治疗的进展为个性化医疗提供了有前景的途径。我们高度重视利用遗传知识创建一个全国性筛查项目和患者登记系统,旨在了解近视的全国负担,因为我们知道我们的近亲结婚率很高,这反映了致病的纯合等位基因和始祖突变。这项举措将纳入遗传咨询并利用创新技术,这对沙特阿拉伯医疗系统中的疾病管理、早期识别和预防至关重要。

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