Posted in The Medical Stuff

Gene genie – Genetic macular conditions

Posted on by One Vision
2 women facing front holding pages. Lefthand Blonde woman has the words healthy eyes, carrier or Macular Dystrophy with a question mark. Righthand brown haired woman has a red cross with Macular Dystrophy text
Stargardt/Macular dystrophy is caused by faults in a gene known as ABCA4.

This gene provides the instructions for making an important protein that usually removes toxic by-products out of the light-sensing cells in the retina, at the back of the eye.. But when this protein is missing or faulty, these substances build up and form a fatty waste product called lipofuscin, in and around the macula that started to affect my central vision.

When faults in the ABCA4 gene or others are the cause of the condition, I will have inherited one faulty copy of the gene from each parent. My parents will have typically each carried one copy of the faulty gene but they did not have the disease themselves.

My sister seems to be ok thank goodness. She is 2 years younger. I asked my eye specialist on Thursday about her and if she isn\’t presenting problems now then hopefully looks like she got both the good eye genes from our parents. There are 3 possible outcomes. 2 healthy genes, 1 of each and 2 unhealthy genes. The latter is what I now know I received from my parents. One faulty gene from each.

Although having faults in ABCA4 is the most common cause of Macular dystrophy/Stargardts, a minority of people have faults in other genes.

Posted in How I'm Adapting, The Medical Stuff

Eccentric Viewing

Posted on by One Vision
Living well with low vision

An interesting article on eccentric viewing. My eyes have been naturally helping me for a couple of years now.

Quite fascinating how your body will adapt on it’s own. Although you can learn this before you need to. Although my eyes started to organically negotiate this by themselves which is amazing really! the only way I can describe it is that your eyes move around slightly.
Usually looking beyond and a little bit above what you are needing to see using your peripheral vision. ..this was the start for me, knowing that my eyes had taken it upon themselves to help me out. The first time I though, right, this is happening now.
Please click on the link below for more information ☺
Posted in Progression updates

My progression so far… #1

Posted on by One Vision
Previously…
⚫ May 2015… At Diagnosis. 20/20 best corrected (ie… With distance glasses)

Latest eye test.

⚫ 21st September 2017… 20/30 (Best corrected).
⚫ Faces aren’t clear but I can see features as if it’s a photograph smeared in vaseline, like I want to clean my eyes.
⚫ Still picking things up 😉…#standard.
⚫ Black blob sometimes right side, my worst eye, think people are stood next to me.
⚫ Getting better at telling people I have bad eyes. I really don’t want anyone to know. Would they treat me differently? I hid it initially because I could and I wanted to get it straight in my own head. I’m better. My close friends and family know. But sometimes, I can’t be bothered to explain and just say ‘oh yeah” to strangers fuzzy little photos.
⚫ When tired or stressed faces have two black holes for eyes usually when I\’m watching TV.
⚫ Not confident it’s my friend or the bus in the distance, so won\’t wave or flag down till I’m very sure ☺
⚫ Kerbs are becoming a problem.
⚫ Getting nervous crossing roads. Moreso my right side.
⚫ Just about ok in the dark, nervous If it’s really dark.
⚫ I won’t want to go up or definitely not down stairs or walk on uneven dark ground.
⚫ Lights, of any sort hurt my eyes. The glare is brighter now than before. I actually wince if glare from a car in the sun or window , car lights. Shop lights. Happens, day or night.
⚫ I keep seeing the doggo in places she’s not there. She’s a black labrador so looks like the black blob when its dark to me.
⚫ Stars 25% of the time, look like crystal chandelier drops…cannot make out constellations when this happens. Quite beautiful in its own way, but no good when I’m trying to find them.
⚫ Live in the dark. Because I can’t bear bright light. I trip over the dog and once nearly full sat on her but lights are my main problem. So is the dark! Even lamps annoy me.
⚫ I’ve started doing a weird thing. Recently, when I’m sat close to someone, my eyes seem to dart to each eye as if they can’t focus on one. I’m getting self conscious about it.
⚫ Huge font on my devices. And if you show me a photograph, just magnify it, and don’t be surprised if I ask you ‘what is it’ still.
⚫ I don’t know what I’m looking at if it’s very small or similar colours. Need a few seconds to focus on what you are showing me. So, please be patient.
⚫ Coins. Makes giving the right change difficult. So usually end up with a load of change in my purse. As I said will just give a note instead unless I feel I’m not or anyone else isn’t in a rush. If there is a queue, I put pressure on myself.
⚫ Stopped driving recently. Didn’t feel safe.
⚫ My eyes have to look above something to see it, especially in the dark, this is called eccentric viewing. I explain this on another post. You can learn this before this happens yourself, but in my experience, my eyes started to do this naturally. ..bless them 👀