青光眼生物标志物的最新专利和进展。

Basilio Colligris, Almudena Crooke, Xavier Gasull, Julio Escribano, Rocío Herrero-Vanrell, Jose Manuel Benitez-del-Castillo, Julián García-Feijoo, Jesus Pintor
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引用次数: 8

摘要

青光眼是一种主要由眼压过高引起的眼部疾病。这种情况往往是遗传的,可能直到晚年才会出现。压力增加,会损伤视神经,引起视力丧失。如果不进行治疗,青光眼会在几年内导致失明;因此,青光眼必须在发生长期视力丧失之前诊断出来。如果及早诊断和治疗,这种疾病是可以控制的。通常,患者不会注意到压力增加带来的任何早期症状或疼痛,因此早期诊断是有问题的。超过一半的青光眼患者不知道他们患有这种致盲疾病,当他们被诊断出来的时候,他们已经不可逆转地失去了大约30-50%的视网膜神经节细胞。青光眼的诊断目前是基于疾病的特定体征,特征性视神经头改变和视野丧失。因此,需要改进青光眼的早期诊断方法。分子遗传学对认识青光眼的病理生理和治疗具有重要意义,但在青光眼的诊断中应用尚不广泛。青光眼的遗传学研究揭示了许多与青光眼相关的基因和染色体位点。因此,需要更好地了解青光眼的分子机制,以获得早期诊断和避免潜在的疾病进展。本文主要从分子遗传学角度对青光眼诊断的最新进展和方法进行综述。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Recent patents and developments in glaucoma biomarkers.

Glaucoma is an eye condition mainly developed from an excessive intraocular pressure. The condition tends to be inherited and may not show up until later in life. The increased pressure, can damage the optic nerve, provoking loss of vision. Without treatment, glaucoma can cause blindness within a few years; consequently glaucoma has to be diagnosed before long-term visual loss occurs. If it is diagnosed and treated early, the disease can be controlled. Usually, the patient does not notice any early symptoms or pain from this increased pressure, so the early diagnosis is problematic. Over half of the patients with glaucoma are unaware they have this blinding disease and by the time they are diagnosed, they already have irreversibly lost approximately 30-50% of their retinal ganglion cells. Glaucoma diagnosis is currently based on specific signs of the disease, characteristic optic nerve head changes and visual field loss. Thus, improved methods for early diagnosis of glaucoma are needed. Molecular genetics are valuable for the understanding the pathophysiology and cure of glaucoma, but still are not widely used for its diagnosis. Genetic studies on glaucoma have revealed many genes and chromosomal loci associated to glaucoma. Consequently, a better understanding of the molecular mechanisms underlying glaucoma is required to obtain early diagnosis and avoid potential disease progression. In this article, we revise the patents and the corresponding literature on the latest developments and approaches in glaucoma diagnosis, using mainly molecular genetics.

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