Blind and Visually Impaired Community
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RP Genetic Testing (self.Blind)
submitted by matt_may
My retina specialist sent me to get my RP sequenced and I got a very annoying result. My RP's genetic cause couldn't be identified. They tested over 120 genes. Anyone else had a similar experience?
TheBlindBookLover 3 points 4y ago
Hi. As a kid, my doctors bounced between RP and LCA (Leber’s Congenital Amaurosis). After genetic testing, I learned that I had LCA. There is a chance that your specific gene has not been discovered yet. I would suggest trying to get tested for eye conditions that are similar to RP. I hope that this helps.
matt_may [OP] 1 points 4y ago
Thanks for replying. My diagnosis isn't in doubt. Johns Hopkins verified using EKG/visual fields and OCT.
JackEsq 1 points 4y ago
You might try My Retina Tracker. It is free genetic testing and my understanding it tests the majority of known genes.
KnowsNataliePortman 1 points 4y ago
I’ve been signed up for my retina tracker for some time. It looks like all I can do is upload test results if I get them. There’s no detail about free testing or where to go. Do you know any more about this? I’ve seen others refer to the free testing with them but I can’t find info.
JackEsq 1 points 4y ago
$1 pdf warning.
On the first page it says those within the US are eligible for free genetic testing but that you have to go to a doctor that is participating in the program. The document also has an e-mail contact for additional questions.
On the first page it says those within the US are eligible for free genetic testing but that you have to go to a doctor that is participating in the program. The document also has an e-mail contact for additional questions.
matt_may [OP] 1 points 4y ago
The testing came up with 5 suspicious genes that are technically considered not a cause. They are genes that have been shown in correlation with RP but not proven as a cause. Maybe one day I'll get an answer
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