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Understanding the Genetics of Retinitis


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Understanding the Genetics of Retinitis

  1. 1. Introduction to theGenetics ofRetinitis PigmentosaKimberly J. Guthrie, MS CGCCertified Genetic CounselorMayo ClinicJacksonville, FL
  2. 2. Background Between 1 in 3500 and 1 in 4000 individuals in the United States will develop RP RP can be isolated or associated with other medical issues as part of a genetic syndrome
  3. 3. Inheritance Taking a family history can help determine the inheritance pattern and the risk to children and other family members RP can be inherited in different ways – Autosomal dominant – Autosomal recessive – X-linked
  4. 4. Genetics of RP At least 35 different genes have been found to cause isolated RP Genetic testing is informed by inheritance patterns Testing panels that test multiple genes at once are available
  5. 5. Benefits of GeneticTesting for RP Knowledge of the underlying cause Determine eligibility for clinical trials Clarify recurrence risks If the mutation in the gene is identified in an individual, multiple prenatal diagnostic options would be available
  6. 6. What to Expect: TheFirst Genetic CounselingVisit Review of medical records including eye doctor’s records Drawing out and interpreting the family history Discussion of genetic testing options including the benefits and limitations of genetic testing Answer any questions you may have
  7. 7. What Happens if I haveGenetic Testing Usually you will have your blood drawn for testing – For this type of testing it doesn’t matter if you have eaten or not – Often we first test the person with a diagnosis of RP and discuss testing other relatives after test results are available Results are typically available within one to two months
  8. 8. What to Expect: ResultsDiscussion If a mutation is found, the discussion will include: – Information about that gene – Risks to future children and other family members – Discussion of clinical trials or research studies available – Answering any questions you may have
  9. 9. What to Expect: ResultsDiscussion If no mutation is found, the discussion will include: – Review of limitations of testing – Discussion of whether additional testing may be of benefit – Making a plan for follow-up – Answering any questions you may have
  10. 10. For More Information Genetics Home Reference – -pigmentosa GeneReviews: Retinitis Pigmentosa Overview –
  11. 11. To Schedule anAppointment To schedule a Genetic Counseling appointment at the Mayo Clinic in Jacksonville, FL Call (904) 953-2272