关键词: NGS blindness elevated intraocular pressure elevated intraocular pressure glaucoma glaucoma glaucoma genes glaucoma genetics microarrays monogenetic glaucoma

来  源:   DOI:10.2174/1566524023666230602143617

Abstract:
Glaucoma is a group of diverse diseases characterized by cupping of the optic nerve head due to the loss of retinal ganglion cells. It is the most common cause of irreversible blindness throughout the word; therefore, its timely diagnosis and early detection through an ophthalmological examination are very important. We, herein, present the information on the epidemiology, pathophysiology, clinical diagnosis, and treatment of glaucoma. We also emphasize the investigations of the last decades that have allowed identifying numerous genes and susceptible genetic factors. We have also described in detail the genes whose mutations cause or contribute to the development of the disease.
摘要:
青光眼是一组不同的疾病,其特征是由于视网膜神经节细胞的丧失而引起的视神经乳头拔罐。这是整个单词中不可逆转的失明的最常见原因;因此,通过眼科检查及时诊断和早期发现非常重要。我们,在这里,提供流行病学信息,病理生理学,临床诊断,和青光眼的治疗。我们还强调了过去几十年的研究,这些研究允许识别许多基因和易感遗传因素。我们还详细描述了其突变导致或有助于疾病发展的基因。
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