Posted in Research for a cure or treatment for us

Stars in our eyes

PICTURE DESCRIPTION Picture of myself facing front. Red long hair and green eyes. A close up.

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🤞🏻

Link for video and more information.

Posted in Useful Information

Stargardt’s what we see

Stargardt Disease. The most common out of the Macular Dystrophy spectrum of conditions. Because of this, It’s most likely I have this problem.

I haven’t been genetically tested yet for which gene is causing my eyesight loss.

They know it’s Macular Dystrophy, but is yet unclear what sort.

This is a depiction of how the brothers see. Some people have grey/black blobs masking their vision, blind spots and floaters.

Link to Two Blind Brothers Facebook page

Sometimes you may see me tilting the phone or whatever I’m looking at. This is because of the tiny blind spots.

This is called eccentric viewing which came naturally to me early on.

You can have lessons in this from the low vision clinic or the Macular Society offer it too.

The eyes try to fill the blind spots so words or pictures are sometimes hard to make out or become the wrong word or image, with interesting results now and again.

I’ve wrote about this. If you go to my websites search box on desktop, you can search for anything you like including eccentric viewing.

Below is a quick link to the search box function.

Link to my search box

Posted in How I'm Adapting

Bright eyes

Also… I’ve been to the local sight charities group today. For a chat over coffee and biccies.

Met alot of lovely new people and some familiar faces. (once I’d stared at them for abit 🤭)

Young, old and in between.

But… I’ve realised. I’m even trying to hide this… In a sight loss group! 🤷‍♀️

Don’t know if I’m just that used to trying to disguise it, it comes naturally, or if I’m just denying it all to myself. Like I won’t give in to it, as it just makes everything too real for me.

Tonight I’m going to listen to podcasts, or youtube programmes.

Make them all good for tomorrow.

So. If anyone messages me for few days, I’m sorry, I’m going to have to voicey you back instead of write anything.

Just wanted to update the blog before I give my poorly peepers a rest.

Sat inside with the bright artificial light. Stubbornly wouldn’t pop my sunglasses on. There even were people there wearing sunglasses themselves. Me being me, sat there. Didn’t put them on until I went outside #standard

I’ve got light sensitivity and photophobia. So it’s my own fault.

Knew my eyes were struggling, but blimey, do they hurt now!

No… I don’t get it either!

PICTURE DESCRIPTION
Cartoon depiction of myself facing front, with red hair covering my eyes with my hands. With purple t-shirt on.