Genetic Eye Disease

A genetic disorder is one that may be passed on to children via their parent's genes. Genes are made up of 'building blocks' of DNA that determine the traits each of us express. The subtle genetic differences we have as individuals are normally harmless and essential to making us who we are and how we look. Sometimes though, these genetic differences are more significant and can cause disease. The condition may then be seen to recur within families.

Many eye diseases may be caused by genetic mutations in our DNA. Some disorders are common in the population - for example, macular degeneration - while others such as retinitis pigmentosa (night blindness) are relatively rare. More than half of all cases of blindness among children are due to genetic eye diseases and include conditions such as congenital (present at birth) cataract, retinal dystrophy and degeneration, optic atrophy and congenital glaucoma. In adults, glaucoma has special significance as it is a leading cause of blindness with studies showing a significant proportion of disease is heritable. In other words, relatives of individuals (especially first-degree relatives) are at higher risk of developing glaucoma compared to the general public.

Even though we have discovered much about genetic causes of eye disease over the past decade, there is still a lot of work to be done. In addition to finding new genes, we still have much to learn about the ones we've already found. Most eye disorders caused by genetic variation are not yet treatable and this is largely because of our limited understanding of the underlying disease process, and the subsequent difficulties in developing therapies that may of benefit. However, it is through projects like ToGER that we are making progress; ongoing medical research coupled with technological advancement is the key to better management of heritable eye disease promising earlier diagnosis, more effective treatment and ultimately a cure for some disorders.