Posted in The Medical Stuff

Macular Dystrophy v Macular Degeneration

These 2 conditions are very similar in symptoms and outcome but are not the same.
In comparison with macular dystrophy, macular degeneration is typically an age related disease process of the macula. Wear and tear. It is far more common than macular dystrophy. In fact macular degeneration is the most common cause for “legal blindness” for people over the age of 65. Experts define legal blindness as a reduction of best corrected vision (meaning vision with best glasses or contact lenses) to 20/200 or less. Macular degeneration, although it has hereditary components, does not follow clear hereditary patterns. So, not all people with a family history of macular degeneration will suffer from the disease. Other risk factors for age related macular degeneration include: advancing age, exposure to UV radiation, smoking, obesity, and diets low in specific carotenoids such as lutein and zeaxanthin

As you can see, a number of these risk factors for the development of macular degeneration are “modifiable” and as such within our control.

There are 2 types. Dry, which cannot be treated, and Wet, you may need regular eye injections and occasionally a light treatment called to stop your vision getting worse.

Vitamin A is recommended for Macular Degeneration but not for Macular dystrophy.

My Macular Dystrophy is linked to genetic mutations that, for no apparent reason, other than the gene is faulty triggers degradation of retinal cells. Some forms of macular dystrophy appear in childhood, and other forms appear in adulthood. Like mine in my 40’s.

It is classed as a rare disease and therefore unfortunately doesn’t get enough awareness and nobody has ever seemed to have heard of it unless you yourself have it or someone you know.

Posted in Before Diagnosis, The Medical Stuff

We are family – My Family and eye Genetics

One of the questions that I have been asked is will my family have this condition.

This is the hardest fact to face. More than me having this disease.

My parents didn’t have a macular condition. It would have presented itself at somepoint. But they must have been carriers of the disease.

So, they were each a carrier of one mutated gene and one normal gene ie carriers of the disease. This wouldn’t affect them personally.

So when they passed a copy to me, because you inherit a copy from each parent, I got the 2 bad copies from each parent.

I\’ve seen lots of posts on the facebook groups I\’ve joined and there are parents blaming themselves for their children having this condition.

Well if I may speak for someone in this position, there is no way I could ever blame my Mum and Dad for this. Nobody is to blame. As far as I’m concerned it’s just one of those things.

They never knew. I’m glad they didn’t and both of them passed on before I found out. So I didn’t have to tell them. Hopefully this condition in my family, and it is there, just dormant as carriers, as I’m not aware of any others, may die out with me.

Firstly, my sister (we both have the same parents) will have any of these 3 outcomes.

°Have macular dystrophy.

°Be a carrier.

°Be completely fine.

My sister looks to be OK though as my consultant said she’d would be most likely to be presenting symptoms now.

I’m going to ask about genetic testing next time I see my eye consultant.

My son. This is hard for me to face. Will be a carrier as he will have a mutated gene from me as I don’t have a normal eye gene to give him.

So if his paternal gene was a normal one he stays a carrier. If it was mutated he could have what I have.

This is how it is inherited.

You can have generations of carriers with no problems and then it just takes 2 of the same faulty genes, to be passed down and then bingo, the person has it from the day of conception.

This is why the condition is rare. 95% of people aren\’t carriers. Only 5% are. So, as you can see the genetics of this mean it’s quite hard for the disease to actually appear.

Posted in The Medical Stuff

Lipofuscin, Drusen and Floaters

Derailed eye images on a clipboard explaining in picture form what is written in the blog post here

Now and again floaters appear.
We all have them it isn’t exclusive to the condition that I have.
So you know what I mean by this.
What I do have slowly building up inside is Drusen (Lipofuscin), a cell waste deposit, yellow in colour that because of my macular not coping with vitamin A and any waste the eye makes. Not being able to process it, just hangs around in there.

Drusen is a German word that means “rock” or “geode.” They are like tiny pebbles of debris under the retina. The cause of the drusen deposits is related to a type of “garbage” disposal problem. Retinal cells dump unwanted material, and immune cells normally clean up most of it. However, if too much is dumped, or it is not properly packaged for disposal, it can pile up. The drusen contain proteins and lipids (naturally occurring molecules that include fats). So this can scar the macular cause cell death and make it degenerate. Causing central vision loss.

Usually get about 1 or 2 at a time. Not many. This happens rarely but thought that I would mention it as I\’m going to read all this back to track my progression.
These don\’t bother me yet.
Usually if you see me with a coffee sticking my fingers in it trying to get a speck, a bug, a bit of dust out. You can bet 9 times out of 10 It\’s usually just a floater I\’m seeing in my coffee and I only realise when there is nothing moving to the side of the cup ☺