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Whole-Exome Sequencing and Autosomal Retinis Pigmentosa

Whole-exome sequencing is an innovative technique currently being used to discover genetic defects that cause retinal disease. As genetic screening technologies continue to rapidly accelerate, methods of preventative care are improving. Whole-exome sequencing is a very promising development for the field of ophthalmology, specifically with the discovery of mutations in the gene HK1 and its link to autosomal dominant retinis pigmentosa (adRP).

Researchers have been using whole-exome sequencing to assess families with adRP, and have successfully identified a link between HK1 mutations and the presence of adRP. Dr. Stephen Daiger, Ph.D., at the University of Texas Health Science Center in Houston, collected blood and saliva samples from 19 members of an Acadian family in Louisiana whose vision loss can be traced back to the 1800, and successfully identified the presence of HK1 mutation and the occurrence of adRP.

Whole-exome sequencing is an exciting new way for doctors to diagnose patients with adRP and to implement vision-saving treatments before symptoms become advanced.


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