ELISE HÉON- Importance of Genetic Diagnosis for Patients with IRDs


My name is Elise Heon. I’m an ophthalmologist. I work at the hospital for sick children in Toronto, and my practice is focused on inherited retinal diseases. Inherited retinal diseases are genetically determined, meaning that the
cause of the visual impairment is due to a defect in the gene. Twenty years ago we
thought that maybe there would be two genes or three genes, but it turns out
there’s probably over 300 genes that cause these conditions. Because we now
know that specific genetic variants can be targeted for a treatment it’s
imperative that all patient be given access to genetic testing. So that the
cause of their visual impairment be understood. So it’s true that genetic
testing is not broadly available. So in Canada for example, it’s through advocacy, and advocacy, and advocacy about the need that the government agreed to support
the requests of genetic testing for inherited with all the generation. So I’m
very lucky about that, and we’ve been doing this for many years now. The only
way that you can get some financial support for these tests, which are
expensive, is by explaining to people why and inherited retinal diseases are now
actionable diseases. There’s, they’re not these rare disorders in a closet where
people will go blind and nothing can be done. Something can be done, but in order
to do something that would benefit the patients we need to understand which
genetic variant. So it’s all about awareness.

1 thought on “ELISE HÉON- Importance of Genetic Diagnosis for Patients with IRDs

  • Wow! I live with VKH, and lost a lot of sight recently due to progressing uveitis. I will have to ask my retinologist if he can refer me to a place that does genetic diagnostic testing.

Leave a Reply

Your email address will not be published. Required fields are marked *