The treatment of eye disease in the future will incorporate huge advances in our genetic understanding of both common and rare eye diseases, and also significant technological development of surgical devices and techniques. In a culture where patients are increasingly aware of novel treatments through the media and the internet, it is important that optometrists are aware of and able to provide advice on these novel therapies.
Understanding our genetic predisposition
In the past 20 years we have witnessed huge advances in genetics from completion of the human genome project in 2001 to advances in both the cost and technical ability of assessing a person’s genotype using SNP (single nucleotide polymorphism) arrays and more recently ‘next generation sequencing (NGS)’ methods. The latter enables high-throughput testing of vast regions of coding DNA or even entire genomes at a scale, cost and speed that was never previously available. This finding has increased our understanding of monogenic ophthalmic conditions, where a single abnormal gene may confer disease susceptibility, eg inherited retinal diseases, such as retinitis pigmentosa, and also complex genetic diseases where many genes of small effect interact to affect disease risk, eg age-related macular degeneration (AMD).
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