Genetic determinants of inherited Optic Neuropathies

青光眼是一种缓慢进展的视神经视觉障碍，通常但不总是与眼睛中的压力升高有关。有很强的遗传成分。据估计，全世界有超过6000万人受到影响，其中600多万人双眼失明。它是发达国家视力障碍的第二大常见原因，在90岁以上的人口中占10%。澳大利亚受影响的患者人数预计将在未来30年内翻一番。目前的早期检测和治疗方法往往不足，相关的视力丧失是不可逆转的。有一个强烈的需要，以更好地了解疾病的过程和新的战略，以预防和治疗视力丧失。两种不太常见的不可治疗的视神经失明的原因是Leber遗传性视神经病变（LHON）和常染色体显性视神经萎缩（ADOA），它们发生在比大多数青光眼病例更年轻的年龄组中，因此患者可能会经历大量的身体，情感和经济困难。在10年的时间里，我们已经看到了大量患有所有三种眼部疾病的患者，并开发了一项强有力的研究来确定导致视神经失明的基因及其相对重要性。这项研究正在取得进展，现在已经部分了解了所有3种疾病的遗传学。该项目旨在分析我们澳大利亚人口中的一种新的主要青光眼基因（视神经磷酸酶），并试图了解一些基因相互作用导致某些患者失明而不是其他患者失明的方式。这项工作将导致对这些失明原因的更好理解，并可能导致新的筛查测试，以了解谁是最危险的，并有机会开发和测试针对潜在遗传问题的新治疗方法。

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.