Genetic testing: Uncovering the mystery of vision loss

January 5, 2017

Two moms—one who has retinitis pigmentosa (RP), and one who is raising a daughter with a form of Leber congenital amaurosis (LCA due to mutations in the IQCB1 gene)—talk about the importance of genetic testing.


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If you or someone you love has an inherited retinal disease (IRD), it has never been more important to seek a genetic diagnosis.

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Has retinitis pigmentosa (RP)
Thinking about genetic testing

Lorie: I was diagnosed with retinitis pigmentosa when I was 18 years old, which was just after my senior year of high school.

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Daughter, Sofia, has
Leber congenital amaurosis (IQCB1)

Laura: Sofia, our middle child, has Leber congenital amaurosis with a defect on the IQCB1 gene.

Lorie: Recently I’ve considered being genetically tested. I think up until this point it never made sense. The science wasn’t there. It was very expensive and inconclusive.

Laura: I know what we went through with getting our genetic diagnosis. It took us seven years and we did have one doctor during that time that told us not to bother getting tested.

Lorie: The science caught up. They now know that, okay, there are “x” number of genes. It’s understanding the disease that you have and RP is very complicated.

Laura: The only way you really have a clear diagnosis of LCA is to know your gene.

Lorie: There are many doctors across the world working to solve this problem and they’re all approaching it from a different standpoint. To me, it doesn’t matter who solves the problem. I just want somebody to solve the problem and I need to have the answer of which gene for one of those doctors to be able to help me.

Laura: Everyone needs to get tested. This is the only way to really know what your disease is, is by the genetic diagnosis.

I hope someday that she will be able to see, or at least not be completely blind.

Lorie: Every little bit of sight that I have is super precious and anything that the doctors can do to save that would be amazing.


See Laura and Sofia’s full story

See Lorie’s full story

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