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ARVO 2018: Dr. Stephen Daiger Reports on the State of Genetic Testing for Inherited Retinal Diseases

After presenting a poster on a new mutation in the RP gene KIF3B at the ARVO meeting in Honolulu, FFB-funded geneticist Dr. Stephen Daiger discusses the progress that’s been made in genetic testing for people with inherited retinal conditions.


16 Responses to 'ARVO 2018: Dr. Stephen Daiger Reports on the State of Genetic Testing for Inherited Retinal Diseases'

  1. Judy Hancock says:

    Where do I go to get gene tested?

    • EyeOnTheCure says:

      Hi Judy, One of our programs, My Retina Tracker, offers free genetic testing to members in the registry, if you’re interested. To register and become a MRT member, visit: http://www.MyRetinaTracker.org

    • Marla Mayer says:

      I know of two places: Vitreo Retinal Associates, P.A. in Gainesville, FL and University of Iowa in Iowa City, IA. At Vitreo Retinal, a number of tests were being provided free of charge by Foundation Fighting Blindness. My son was a recipient of the genetic test for RP. We were able to get results that told exactly which changed gene caused his blindness. What a generous organization!

    • J says:

      If you live in the US Go to your eye Dr. and he will tell you what to do

  2. Kim Lollis says:

    My son has Cone Dystrophy. Will any of these advancements be able to help him?

    • EyeOnTheCure says:

      Hi Kim, we would recommend checking out http://www.clinicaltrials.gov to search for trials recruiting for your son’s disease. Once you find a trial, scroll down to the Contacts section and either email or call the location you’d like to participate. Good luck!

  3. Gregory holder says:

    Like to learn more

  4. Joseph Cartina says:

    Are there any treatments for men with Stargardts Disease?

    I’m 31 years old and have Starfardts and so does my brother who is 28.

    • EyeOnTheCure says:

      Hi Joseph, we would recommend checking out http://www.clinicaltrials.gov to search for trials recruiting for Stargardt. Once you find a trial, scroll down to the Contacts section and either email or call the location you’d like to participate. Good luck!

  5. Richard Flake says:

    I would like to know if there are any trials or testing under way to solve a retinal problem caused by the lack of the PRPH2 gene.

    • EyeOnTheCure says:

      Hi Richard, we would recommend checking out http://www.clinicaltrials.gov to search for trials recruiting for PRPH2 genetic mutations. Once you find a trial, scroll down to the Contacts section and either email or call the location you’d like to participate. Good luck!

  6. Annabell Lenz says:

    My Father and brothers had sight problems. one brother later in life was at Mayo and was told he had Retina Pigmentosa. We are not sure what it was but it affected 4 of the 5 boys but not the girls. Now I have a Grandaughter who has Pars Planites. Is there any connection between the two? I am fine. Is there a test to see what is our family?

    • EyeOnTheCure says:

      Hi Annabell, you and your family would need to be genetically tested in order to know what is causing the vision loss. One of our programs, My Retina Tracker, offers free genetic testing to members in the registry. To register and become a MRT member, visit: http://www.MyRetinaTracker.org

  7. Flora E Jackson says:

    I have retinitis pigmentosa. I have gone to NIH yearly for the last for help seven years. They have tested for any mutations in my dominant genes but not for my recessive genes. Where can I be tested?

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