An honest warts & all sightloss blog. I'm living with Macular Dystrophy. To track my progression and hopefully help others. What will happen next?…
I’m second from the right ☺
Macular Dystrophies
Macular dystrophies are a large number of rare, inherited conditions that affect central vision. They can appear in childhood, but some are not diagnosed until later in life (late onset)
⚫ Macular Dystrophy symptoms
Juvenile macular dystrophies affect people in different ways. As your dystrophy progresses, your ability to see clearly will change. Everyone’s diminished eyesight is relative to themselves.
⚫ Macular Dystrophy diagnosis
Most people are diagnosed with a juvenile dystophy after visiting an optician who identifies a potential problem. They will be then referred to the nearest hospital eye centre or department.
⚫ Prognosis
As of yet. There is no treatment or cure but several bodies are working on it. If you do want to help with this, please see the Macular Society. I often share their posts and they really do need help with funding research.
⚫ Stargardt disease
Stargardt disease is a genetic condition caused by a tiny alteration in a single gene. The most common of these conditions. Uncommon to cause total blindness.
⚫Bestrophinopathies
This is a group of five related macular conditions caused by mistakes or mutations in a gene called BEST1. Some people never progress from the earliest stage of the disease 20/40 and will maintain 20/40 or better in both eyes.
⚫ Cone Dystrophy
There are various ways in which cone dystrophy is inherited but it is most commonly described as ‘sporadic’.
⚫ Doyne honeycombe dystrophy
Doyne honeycomb dystrophy is a dominant condition. It’s uncommon for it to cause total blindness.
⚫ Sorsby Fundus
dystrophy
Sorsby fundus dystrophy is extremely rare and not thought to cause total blindness.
⚫ Pattern dystrophy
Pattern dystrophy is a dominant macular dystrophy, usually occurring later in life. This is not thought to cause total blindness.
⚫ Bull’s eye maculopathy
Bull’s eye maculopathy describes a number of different conditions in which there is a ring of pale-looking damage around a darker area of the macula. This isn’t know to cause total blindness.
⚫Pseudoxanthoma elasticum
Pseudoxanthoma elasticum or ‘PXE’ is a disease that affects many parts of the eye. In some cases can cause blindness.
Now, whilst I’ve not had a genetic test to find out which gene is involved with my dystrophy yet, you will have noticed that I refer to Stargardt disease which is the most common of the Dystrophies.
They are testing me to find out why my peripheral vision is compromised, as it shouldn’t be with the diagnosis I first had in 2015.
About 1 in 10,000 people have an genetic eye dystrophy of some sort.
Things I’ve learnt in the 6 months at least…
⚫ Sunglasses are my second favourite thing… ever.
⚫ I’m more confident and safer going upstairs than coming down them.
⚫ Kerbs are a little bit frightening.
⚫ Scary walking in the dark. Can’t see the floor well.
⚫ I can read books again on my tablet with huge font.
⚫ I need my reading glasses on to DIY.
⚫ I cannot read a map without maybe a magnifying glass.
⚫ I need stronger glasses.
⚫ There really does need to be large font or Braille menus as standard. (I know… I’m mentioning this… AGAIN ☺)
⚫ I’m not conscious enough of my blind spots yet. So I trip over the dog when I’m walking her.
⚫ I nearly flagged down a lorry at the bus stop.
⚫ I won’t wave back until I can see you or by the shape of you that I find familiar. As I will probably find ‘your’ shape more familiar than your head and face at a distance.
⚫ A large shop queue behind me will makes me hand a note out to pay … Even though I have change.
⚫ A card machine screen and buttons need to be bigger.
⚫ I need to get a spare pair of glasses.
⚫ I’ve stopped saying ‘oh yeah’ whilst being shown a photo even though it could be anything. I will tell them to make it bigger for me or explain what it is. Even if I don’t know them.
⚫ I’m not hiding it as much. I can’t.
⚫ I will get someone to thread a needle for me. Ever since that time I tried to thread a pin 📍 with no bobble on the top.
⚫ I sew, if I have to, by touch, and looking very closely now. Only if I’m desperate.
⚫ Coins and notes are blurry.. I’m glad they are different shapes and colours. I feel the coins.
⚫ I’m feeling more things. (I’ve got a post coming about this)
⚫ I’m very grateful for being independent and having the vision I have at this very moment.
⚫ I pick stuff up off the ground if I think it’s something I’ve dropped… Sometimes a ‘coin’ is a dead insect, foil top, a leaf or something far worse.
⚫ The amount of times I’ve conditioned my hair rather than shampoo it is crazy. There should be a raised dot or something. What can’t they make the word Shampoo… Conditioner… Big?
⚫ You will be glad to know I’ve stopped putting berry coloured lip liner on my eyes thinking it’s eyeliner. I have no lip liner now, only lipsticks for very this reason. Made my eyes look like they were sore.
⚫ To look at things closely in shops, don’t presume a jar is tartare sauce because it looks the same. My fish finger sandwich was given the sudden surprise addition of horseradish sauce. Don’t think the dog appreciated it either. Same goes with natural yogurt and cottage cheese. Cranberry sauce and strawberry Jam…
⚫ Make up taking longer to put on. I have to put it on in natural light, as bright light is painful. A magnifying mirror is a must so I don’t look wonky or just permanently surprised.
⚫ Glare is like a screwdriver to the eyeballs. I’ve learnt to be more aware and I now turn away before it hits now.
⚫ Coming from inside to outside and vice versa, makes you momentarily blind.
⚫ When my Mum always told me off for picking things up in shops, maybe I was trying to see them instinctively, like my eyeballs knew there was something wrong but I didn’t know yet. I’ve always done this, even in adulthood. I picked up a cup thinking it was a sewing kit, was very surprised when it wasn’t. Thought tomatoes on a salad in pizza hut were strawberries and cream. Was going to order one for pudding until its was pointed out to me. Lots of moments like that when I look back.
⚫ I’m not ignoring you. I won’t have seen you.
⚫ I sometimes think someone is at the side of me due to black blob. I’m surprised when they aren’t (when I’m outside)… It’s abit unnerving inside (I now live on my own)
⚫ I’ve told the dog to get on her bed, when she’s already in it.
⚫ I don’t like photos of me because I’ve got a squint in them. Eyes trying to focus. I can’t see where I’m supposed to looking anyway.
⚫ I’ve always worn sunglasses on cloudy days but didn’t think anything of it.
⚫ Walking through a field isn’t relaxing. Uneven ground is worrying.
⚫ I use my hearing more to help crossing over a road as an extra measure as I don’t trust my eyes as much as I used to do.
⚫ Don’t always trust what I’m reading is correct and will read a few times. Or stare longer at an object to makes sure it is what I thinking think it is.
⚫ Text is often wavy, on a slant and I’m not sure things are straight.
⚫ Have to concentrate on washing up and dusting. Freaks me out.
⚫ Need a bigger phone.
⚫ Need a bigger television.
⚫ I’m very lucky to have late onset Macular Dystrophy. As in,… not lucky to have it… Don’t want it… But the late onset bit is lucky.
One Vision Blog 