Much effort has been concentrated on finding the faulty genes causing inherited sight loss; this is called ‘gene mapping’. Researchers may then go on to identify the specific fault in the gene that causes the disease.
Research into finding the genes causing inherited retinal diseases has progressed rapidly over the last decade. However, many more genes remain to be identified. In addition to the growing number of known genes (more than 250 genes; July 2018), a large number (sometimes over 100) of different mutations within each of these genes have been found to cause sight loss.
Some of the treatment options being currently studied rely upon knowing which gene is faulty in a particular family or individual, which can be achieved through genetic testing. Participation in some clinical trials is also dependent on knowing the identity of your faulty gene.
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