New technologies such as next-generation sequencing are rapidly facilitating the discovery of genes responsible for inherited eye disease, an essential step toward the development of clinically useful gene-based diagnostic tests (genetic testing) and gene-based therapies. In the general guidelines for genetic testing for inherited eye disorders recently published by the American Academy of Ophthalmology Task Force,1 testing has been recommended for disorders where the causative genes are known. Disease-causing genes are now known for many inherited ocular disorders, making testing possible for an increasingly large number of diseases. For many eye diseases, genetic tests can confirm the diagnosis and identify patients and family members at risk for the disease. While diagnostic confirmation and family risk assessment are clinically useful, genetic testing is particularly valuable when the treatment and counseling plan is dictated by the disease-causing mutation. Ocular disorders in this category include inherited retinal degenerations (IRDs) and other inherited retinal disorders, early-onset glaucoma, and inherited optic neuropathies.
Wiggs JL, Pierce EA. Genetic Testing for Inherited Eye Disease: Who Benefits? JAMA Ophthalmol. 2013;131(10):1265–1266. doi:10.1001/jamaophthalmol.2013.4509
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