Genetic determinants of inherited Optic Neuropathies

遗传性视神经病的遗传决定因素

• 批准号: nhmrc : 229960
• 负责人: Prof David Mackey
• 金额: $ 16.65万
• 依托单位: Flinders University
• 依托单位国家: 澳大利亚
• 项目类别: NHMRC Project Grants
• 财政年份: 2003
• 资助国家: 澳大利亚
• 起止时间: 2003-01-01 至 2005-12-31
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/genetic-determinants-inherited-optic-neuropathies/77376
• 关键词: Genetic; determinants; inherited; Optic; Neuropathies

Glaucoma is a slowly progressive visual disorder of the optic nerves often but not always associated with elevated pressure in the eyes. There is a strong genetic component. It is estimated to affect in excess of 60 million people worldwide with more than 6 million of those blind in both eyes. It is the second commonest cause of visual impairment in the developed world, and is present in up to 10% of the population by age 90. Numbers of affected patients in Australia are expected to double in the next 30 years. Current methods of early detection and treatment are often inadequate, and associated visual loss is irreversible. There is a strong need for greater understanding of the disease process and new strategies to prevent and treat visual loss. Two less common causes of untreatable optic nerve blindness are Leber Hereditary Optic Neuropathy (LHON) and autosomal dominant optic atrophy (ADOA) which occur in younger age groups than most cases of glaucoma, and hence sufferers may experience substantial physical, emotional and economic hardship. Over a 10 year period we have seen large numbers of patients with all three eye conditions and have developed a powerful study to determine the genes which cause optic nerve blindness and their relative importance. The research is gathering momentum and the genetics of all 3 conditions are now partly understood. This project seeks to analyse a new major glaucoma gene (Optineurin) in our Australian population and to try to understand the way in which a number of genes interact to cause blindness in some patients but not others. This work will lead to greater understanding of these causes of blindness and is likely to lead to new screening tests to know who is at most risk, and the opportunity to develop and test new treatments targeted to the underlying genetic problem.

青光眼是一种缓慢进行性的视神经视觉障碍，通常但不总是与眼压升高有关。这里面有很强的遗传成分。据估计，全世界有6000多万人受到影响，其中600多万人双眼失明。在发达国家，它是导致视力损害的第二常见原因，到90岁时，高达10%的人会出现这种情况。澳大利亚受影响的患者数量预计将在未来30年内翻一番。目前的早期发现和治疗方法往往是不够的，相关的视力损失是不可逆转的。迫切需要对疾病过程和预防和治疗视力丧失的新策略有更多的了解。无法治疗的视神经性失明的两个较不常见的原因是Leber遗传性视神经病变(LHON)和常染色体显性遗传性视神经萎缩(ADOA)，与大多数青光眼病例相比，这两种疾病发生在较年轻的年龄组，因此患者可能会经历严重的身体、情感和经济困难。在10年的时间里，我们看到了大量患有这三种眼病的患者，并开展了一项强有力的研究，以确定导致视神经失明的基因及其相对重要性。这项研究正在蓄势待发，所有三种疾病的遗传学现在都有了部分了解。该项目试图分析澳大利亚人群中的一种新的主要青光眼基因(Optineurin)，并试图了解一些基因相互作用导致某些患者失明的方式，而不是其他患者。这项工作将有助于更好地了解这些致盲原因，并可能导致新的筛查测试，以了解谁最有风险，并有机会开发和测试针对潜在遗传问题的新治疗方法。