
This is what Macular Dystrophy looks like.
My eyes have flaws in them with a genetic condition, but look totally healthy don’t they?
They haven’t altered. Don’t look strange. You cannot tell at all.
So you are looking at a pair of eyes that were made from a faulty eye gene passed from my mother and my father when I was made, during conception.
This is why it is rare. They had to each have the faulty gene… Carriers… (along with one that would have been healthy as, as far as I know, they didn’t have this condition) to pass on to me.
So I got both copies that were a mutant gene.
Luck of the draw. Like everything in life. I didn’t realise this until some decades later.
I have no healthy eyeball genes to pass to my son. So he will nailed on have a mutant, faulty gene from me. Which at the very least makes him a carrier for Macular Dystrophy.
If his father has passed on a healthy one he stays a carrier. If it’s mutant. He’s the same as me.
This is how it transfers from person to person.
This is why research is vital.
And there is positive news ☺
I’ve always said there is hope!
Anything is possible in life. We never know what’s around the corner 🙏 💜
Stargardt research. Potential therapy on the horizon for inherited retinal disease.
Prof. Carel Hoyng, A professor of ophthalmology from Radboud University, The Netherlands, is involved with ongoing gene therapy trials in Stargardt disease.
Research is going into being able to repair the RNA mutations, with the next step being that they will go into clinical Phase 1/2, probably in about a year. At the moment the stage they are at is in talk studies. The next phase after that is to go to in-patients.
An RNA therapy is designed to correct the mistake, or mutation, in the RNA of someone with a genetic disease. By correcting the mistake, the RNA can then be used to create the protein that the cell needs, taking away the underlying cause of the disease.
Ribonucleic acid (abbreviated RNA) is a nucleic acid present in all living cells that has structural similarities to DNA.
If everyone can keep their fingers crossed please that would be smashing🤞🏻
