@dianarobinson
• Ask for referral to a retina genetics or inherited eye disease clinic (often found at teaching hospitals or large academic centers).
• My Retina Tracker Genetic Testing Program – offers no-cost DNA testing for inherited retinal diseases (run by the Foundation Fighting Blindness). https://www.fightingblindness.org/open-access-genetic-testing-program
• Labs like Blueprint Genetics, Invitae, and PreventionGenetics also accept self-pay or physician-ordered panels for cone-rod dystrophy.
It appears to be medically necessary to get DNA testing to -
Confirm the diagnosis — inherited retinal dystrophies (like cone-rod) involve dozens of genes; identifying which one affects the retina may explain why your prior macular-hole surgeries failed.
2. Assess surgical risk — certain mutations affect the zonular fibers (the “springs” holding the lens capsule). A genetic basis could mean the fibers are inherently weak in both eyes, so the surgeon must plan differently.
3. Predict long-term prognosis — genetic findings help the surgeon know if further procedures will help or if vision loss will progress from the underlying dystrophy rather than mechanical damage.
4. Qualify for genetic therapy or clinical trials — inherited retinal diseases increasingly have gene-specific treatments, and identifying the mutation can open access to those programs.
Good luck - You are making progress - I see you found retina specialist and it's smart to ask for DNA test to analyze how to best treat your eyes. ( I read and research a lot on eye problems because I have macular degeneration and a macular hole which hasn't had surgery.) Check with your insurance to see if you get physician order for testing then it will be paid for by insurance. If you just order the test yourself then insurance won't pay. Not sure what it costs.