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Invited Commentary
December 2017

Progress in Diagnostic Genetic Testing for Inherited Eye Disease

Author Affiliations
  • 1Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts
JAMA Ophthalmol. 2017;135(12):1385-1386. doi:10.1001/jamaophthalmol.2017.4957

The discovery of ocular disease genes and the development of rapid next-generation genetic sequencing have created new opportunities for genetic diagnostic testing for inherited eye disorders. Next-generation sequencing (NGS) has also been termed massive parallel sequencing because the technology sequences fragments of DNA many times before aligning the sequence to a reference genome. The advantages over traditional Sanger sequencing are improved accuracy and increased capacity, which allow for rapid and precise large-scale sequencing. Next-generation sequencing technologies can be used to sequence entire genomes, exomes (all the protein-coding sequences in a genome), or panels of genes known to cause a selected disease. Several panel tests are already in clinical use for genes known to cause retinal dystrophies, early-onset glaucoma, and inherited optic neuropathies.1,2 Gene panel tests are particularly useful for genetically heterogeneous conditions, such as inherited retinal degenerations. In a study by Rim et al3 in this issue of JAMA Ophthalmology, NGS was used to sequence a panel of genes known to underlie the development of nystagmus early in life, a clinical diagnosis that can accompany a diverse array of disorders.

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