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Genetic Incidentaloma in Ophthalmology

Priscilla Q. Vu, MS1; Jack J. Tian, BA2; Alfredo A. Sadun, MD, PhD3
[+] Author Affiliations
1University of California, Irvine, School of Medicine
2David Geffen School of Medicine at University of California, Los Angeles (UCLA)
3Doheny Eye Institute, UCLA, Los Angeles
JAMA Ophthalmol. 2016;134(2):123-124. doi:10.1001/jamaophthalmol.2015.4679.
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This Viewpoint discusses “genetic incidentalomas” in ophthalmology.

Advancements in technology have made gene sequencing clinically important. James Watson, co-discoverer of the DNA double helix and Nobel laureate, had his complete genome published as part of the Human Genome Project in 2008.1 Surprisingly, Watson was homozygous for the USH1B (OMIM 276900) mutation responsible for Usher syndrome, which was thought at that time to have complete penetrance for deafness and blindness. However, Watson was neither deaf nor blind. This finding led to the understanding that Usher syndrome penetrance is more complex than originally thought. This incidental genetic finding of USH1B may have no health significance. The clinical use of genetic sequencing is bound to uncover such coincidental findings.

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