New studies show potential for using genetic information to create personalized vision care

Two new studies demonstrate potential future opportunities to use genetic information to treat vision conditions. The new studies are being presented at the 2018 Annual Meeting of the Association for Research in Vision and Ophthalmology (ARVO) in Honolulu, Hawaii, Sunday, April 29 – Thursday, May 3.

Genetic Information may help create personalized vision care for patients
Scientists have found that genetics could be used to create personalized treatment for patients with advanced age-related macular degeneration (AAMD), a leading cause of blindness worldwide.

The study examined 119 individuals with 40 unique mutations in a gene associated with the disease. AAMD was present in 71% of the population containing rare mutations, while AAMD was present in 52% of the control group. An analysis of individual mutations identified three mutations that led to two distinct pathways to AAMD.

"Heterozygous genetic variants in the complement regulatory protein Factor I (FI) gene strongly predispose individuals to AAMD," says author Johanna Seddon, MD, ScM, FARVO, of Tufts Medical Center. "Using serum from carriers and non-carriers of these rare variants, we evaluated protein FI's biologic activity, and results provide a basis for functional stratification of patient populations with the potential for personalized treatments in AAMD.

Abstract title: Functional Analysis of the Complement Inhibitor Factor I in Sera of Patients with Advanced Age-Related Macular Degeneration
Presentation start/end time: Sunday, April 29, 3:30 – 3:45pm
Location: Room 320 Abstract number: 790

Resistance to retinal injury in parents is passed on to children
Mice born of parents exposed to repeated stress proved to be more resistant to retinal injury than a control group derived from non-exposed parents.

"Our findings support the novel theory that an individual's resilience to retinal disease depends not only on classical genetics, but also quite potently on inheriting adaptive responses induced in their parents by exposing them to non-harmful stressors," says first author Jeff Gidday, PhD, of Louisiana State University School of Medicine. "In other words, induced resilience to injury can be directly passed on to our offspring".

Over sixteen weeks, mice repeatedly experienced brief hypoxic stress (lack of oxygyn) three time a week. These mice were then mated with others exposed to the same conditions, or with control mice. Their offspring were exposed, as adults, to an injurious duration of retinal ischemia, a common cause of visual impairment resulting from reduced blood flow to the eye. Those derived from parents who both experienced the hypoxic stress displayed almost complete resilience to ischemia, while offspring derived from just one exposed parent presented with more limited protection. Both groups showed significantly more resilience to injury than offspring derived from non-exposed parents.



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