Not Created Equal

We heard from a reader who has vitelliform macular dystrophy. I had never heard of it. Therefore you can image my surprise when I picked up an article I had downloaded last week and – guess what! – the article talked about vitelliform dystrophy! Sometimes the synchronicity in the Universe is scary.

Anyway, it appears the Universe has declared we are to learn about vitelliform dystrophy. Here we go!

I have discovered all macular diseases are not created equal. There are dozens of them and researchers are discovering more on a regular basis.

Vitelliform dystrophy may look like age-related macular degeneration and act like macular degeneration but it is not macular degeneration. (Don’t worry. We are not throwing you out of the group!)

Vitelliform dystrophy is a pattern dystrophy. They are so called because the damage tends to ‘draw’ things on the retina. For example, one manifestation of the disease looks like a butterfly (photo to the right is a fundus photograph of butterfly pattern).

Vitelliform 2 is called Best disease. This is not because it is the best disease to have nor is it because Dr. Best hijacked the disease and named it for himself. It is because the disease comes as a result of a mutation on the BEST1 gene. (Apparently that means we all have BEST genes and there are at least two of them. How about that.)

Best disease is a pattern dystrophy because – all together now! – it makes a PATTERN on your retina. The pattern is a sunny-side-up egg. The yolk is centered on the fovea.

One of the nice things about Best disease is you may never know you have it.  According to the Hereditary Ocular Disease site 7 to 9 percent of those with Best disease are asymptomatic. Others may experience vision loss but recover most of their function. A much smaller percentage may proceed to neovascularization and serious loss. Of course, the older we get the better chance we have of having some really serious problems. And by the way, children can have this one.

That is because, once again, it is genetic. Best disease is an autosomal dominant condition. That means it is on a body-forming chromosome – not the chromosome that has the x or the y and makes you a boy or a girl.  It is also dominant and can express itself whether or not its partner gene wants it to. You only need one of these babies to be in trouble.

Of course there are all sorts of things that may or will affect whether or not this gene does actually express. However, this is not a place to discuss epigenetics. Nor am I the one to explain THAT baby! Suffice it to say, you should warn everyone you are related to by blood that it has expressed in the family and they need to have regular eye exams.

Like AMD there is absolutely no treatment and no cure. (I get so tired of typing that). If you have Best disease and progress to CNV you may profit from shots.

And that, my dears, is that. Continue reading “Not Created Equal”

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Yesterday’s News

Good morning! Lin just shared a video clip from something that looked like a local TV, health program. The clip was on geographic atrophy. That is GA to those in the know.

I have no problem with information being shared with the public. In fact, I think it is a good thing. The more exposure we get and the more noise we make I am hoping two things will happen. One would be law makers (read the deep pockets of government) will be more aware and sympathetic to our plight. (They might also come to realize it is going to cost BIG bucks to care for us!) The other will be people who have AMD will become more knowledgeable and go for help and support.

There are some drawbacks to these little TV presentations, though. For one, they are a bit behind the curve when it comes to breaking new news. The show talked about a fantastic, recent development that would help people with GA.

Fantastic? OK. Helpful? Yep. Recent? Only if you consider research published in 2013 to be recent.   So shoot me. I am an information snob. That information was just too yesterday’s news for me.

I also think they present half information. If you listen to the clip you will hear the expert talk about a ‘subset’ of patients who cannot be helped with current treatments. Not to put too fine a point on this – and look out because I can feel myself getting ready to rant! – but, honey, the group that can be helped with current treatments is the subset! 15% of AMD patients ‘go wet’. The 85% of us who are left are not the subset! (Told you I was going to rant!)

In the clip there is the implication that replacing RPEs will restore sight. We have talked about this a dozen times before. In GA the photoreceptors are dead. There is no sight without photoreceptors. The RPEs are support cells for the photoreceptors. They do not do any of the ‘seeing’.

But my big complaint about this clip? The expert says your world ‘ends’ when you develop GA!!! (Now I am really revving up. Head for the storm cellar!)

With every significant loss, there is a time of dismay and distress. That does not mean the end of your world! Everyone of us here is made of tougher stuff than you could ever have believed. Maybe you have never been tested before, but the steel is there.

Today I taught my class. I attended a staff meeting and saw two clients. Then I came home, walked the dog and made a meal. I am now writing this page. After that I have a psych report to write. Then maybe some down time ‘reading’ a BARD book.

Tomorrow I work, walk with a friend and go to my yoga class. I am making plans to go into New York City with a co-worker next month. The list goes on.

In short, if my world ended a year and a half ago, nobody bothered to tell me about it! I am still going pretty much full tilt!

So, bottom line? I guess it would be listen to the stuff in the media but remember it might not be accurate or current. Once again, caveat emptor. Best sources still remain published research. If you cannot read it or cannot understand it, ask Lin or me to look at it and we can tell you we don’t understand it either!

And about that end of the world business? Don’t believe everything you hear! GA is not a walk in the park. However, if you want to, you can still do that and dozens of other things as well.

Continue reading “Yesterday’s News”

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Sisters Are Doin’ It For Themselves

I have paid a lot of attention to the male movers and shakers in vision research. Perhaps it is time to note the contributes of the women. Recently I have come upon short articles about the research of two.

Sally Temple, SUNY-Albany, and her colleagues recently published a paper on how nicotinamide can suppress the progression of AMD. Nicotinamide is a vitamin B3 derivative.

Dr. Temple took pluripotent cells, that is stem cells, from people who had AMD and those who did not. She manipulated the stem cells to become retinal pigmentation epithelial cells and grew them in her lab.

One of the first things Temple and her team noted was the cells from the AMD people acted differently from the RPEs grown from healthy subjects’ cells. The cells from people with AMD produced different chemicals. The chemicals were the same ones that figure in the production of drusen and contribute to inflammation.

These were RPEs growing on a culture medium in a glass dish. There was nothing else to contribute to the formation of the chemicals. The chemicals had to be coming from the RPEs. And, with no other possible influences, the cause for the production of these chemicals pretty much had to be genetic.

The fault, dear readers, is not in ourselves but in our genes. One more tally in the genes are destiny column.

But the good news is, when they squirted (or whatever) nicotinamide on the offending RPEs, things improved. Chemicals that are responsible for the bad things were less and the RPEs survived longer.

Perhaps if we find a way to get nicotinamide directly into eyes, we will get the same results in vivo as in vitro. Worth a try.

Masayo Takahashi is a Japanese researcher. Takahashi has been experimenting using pluripotent cells taken from the same people they are going back into. No embryonic cells required.

There is excitement about this new procedure not only because of ethical issues. There are indications this procedure will be cheaper and faster to implement. In additional, they are thinking people can ‘bank’ their stem cells. These can be used either for ‘repairs’ in the original cell ‘owner’ or they can be given to other people who are immune matched. (Sort of like blood type matching. Don’t want the body getting up in arms over the ‘invading’ materials.)

Bottom line is the ladies are out there rocking it just like the men. They continue to come up with great new findings and each one takes us a little bit closer to effective treatments and maybe – just maybe – even a cure.

To copy Lin’s use of old song titles, “sisters are doing’ it for themselves”. And they are doing it for us, too! Continue reading “Sisters Are Doin’ It For Themselves”

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Hodge Podge

This may end up as another chatty, hodge podge affair. There is really nothing major happening and in the world of progressive eye disease nothing major happening is a good thing!

So, actually, I guess that is my first offering here. Those of you who have recently received your diagnosis or have had a crisis and are really distressed – it is not all drama and disease focus for the rest of your life.

You adjust and other things take center stage. That is not only normal but it is a good thing.

Second offering is something I picked up last month at the support group. When I said dry AMD is the base disease, they looked at me as if I had three heads. What I meant – and what they had not gleaned. Why won’t people do their research! Or minimally ask questions? – is that even though the shots have stopped the neovascularization, the growth of new blood vessel that lead to a bleed, you still have the underlying cause of the problem. The cause is regular, old, dry AMD.

This is why, even though you think the stuff we publish on dry AMD does not relate to you, it does.

Wet AMD is one type of end stage AMD and geographic atrophy is the other. Stopping the bleeding does not eliminate the underlying disease. It just eliminates the symptom.

Which brought me to another thought. I have never seen anything that says if an eye prevented from going wet will go to geographic atrophy. Hmmmmm…..

Nuts! More to worry about. Kaszubski et al in Geographic Atrophy and Choroidal Neovascularization in the Same Eye: A Review stated there are people who can have both forms at the same time. Geographic Atrophy generally happens first. (That part is bad news for me although I am under the impression that for me there is very little left to ‘save’ by building new blood vessels.)

To follow the question posed above, though, they also say there is some evidence anti-VEGF shots can increase the chances of GA development.

While that is bad news for you getting the shots it does NOT mean to stop your shots. No shot and you will bleed. Bleeds lead to scarring and certain vision loss now. GA is slow and lead to vision loss later. Given a choice, battle the bleeds and worry about the atrophy later.

End of lecture.

Other than that, in real time Memorial Day approaches and I am thinking summer. Although I know there is ‘no rushing city hall’ (to paraphrase another old chestnut), I started looking up Astellas and Robert Lanza again. Just to see what the dear boy is up to. I have been hoping to get to Philly and the clinical trials this summer. It would be perfect timing for me but I am not sure about the Astellas Institute of Regenerative Medicine (AIRM). They will need to give Wills the go ahead to start one of ‘my’ clinical trials before anything happens for me.

Astellas is gearing up for something, though. Something big. A couple of years back they bought OCATA for $379 million. Now they are on a hiring binge and are looking for a bigger location in or near Marlborough, Mass.

In the business articles I read Lanza purposely hyped the work they are doing on AMD. I am assuming that is still their big thrust. (That is even though AIRM is in a variety of areas of regenerative medicine and Lanza himself is intellectually all over the place, including developing a theory of the Universe!)

Anyway, seeing this big a build-up with lots of business chatter tells me something is going to happen. Just hope it is in the trial I have volunteered for. My eyes and I are not getting any younger! Continue reading “Hodge Podge”

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AMD & Autoimmune Disease – A Connection?

Hello, folks! Here we go again with a topic that is so far over my head I never should have even attempted it. Oh well, one of our readers asked the question. And besides, “a man’s reach should exceed his grasp or what is a heaven for?” (Robert Browning – and one of my favorite quotes😊)

So you have again been forewarned. I am slogging through medical research and I have no clue what 90% of what I am reading means. If you get confused, just consider who is doing the interpretation!

The question was: can AMD be considered an autoimmune disease?

The answer is probably, maybe. They are working on that now. Can I get back to you? Like next year, maybe?

I am sure we all remember the alternative pathway of the complementary immune system. 😱 From what I remember things this system deals with include inflammation and the release of macrophages (big eaters) to clean up the mess. Macrophages are sort of the carrion eaters of your body.

According to webMD inflammation is supposed to protect us from foreign substances. It occurs in response to chemicals and involves an increase of blood flow to the affected area. Fluid leaking into tissues can cause redness and swelling. Swelling can cause damage.

Autoimmune conditions occur when there is no foreign invader and the body starts to identify its own tissues as something foreign. Healthy tissues come under attack.

AMD is an inflammatory disease. It would make sense that with chronic inflammation, the signaling system could easily go awry and result in ‘friendly fire’ casualties. By my way of thinking, this might be even more likely because both inflammation and macrophages are part of the innate immune system. The defenses of the innate immune system deal with nonspecific targets.

Morohoski et al. wrote a paper on autoimmunity in retinal degeneration. He (she? It is K. Morohoski) states “a growing body of evidence indicates that AMD pathogenesis too involves ocular inflammation and autoimmunity.”

But it is not just inflammation and the complementary immune system they are now suspecting. Now they are even suspecting involvement of the adaptive immune system. That is the one in which defenses are ‘made to order’ as opposite to ‘one size fits all’. Think antibodies and developing resistance to a disease; that immune system.

Anyway, now they are thinking damage may cause a breakdown of the blood/ brain barrier – remember the eye is the only part of the brain you can see with the naked eye! – and antibodies may be released into the eye. Some of these are retinal autoantibodies. These are proteins that will attack the retina of the host.

So, in answer to the question: it seems reasonable AMD is an autoimmune disorder. It seems probably that not only is the non-specific, innate immunity system in the mix but the specific, adaptive immune system is involved as well. Is it written in stone? Nope? Are they ready to uncategorically declare AMD an autoimmune disorder? Not yet, but I would predict it is coming. Continue reading “AMD & Autoimmune Disease – A Connection?”

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Shimmering

Albert Einstein once said “the more I learn, the more I realize what I don’t know.” Apparently I am in good company, because I feel the same way.

With no immediate crises in my life and no immediate reason to freak out – and even with geographic atrophy and permanent retina damage, this state of affairs is possible! – I have been trying to get caught up with some research. I keep running into things I have no knowledge or understanding of.

Lin suggested that after over a year we should know SOMETHING about these things. We don’t. For example, I am still clueless about what I can expect concerning the progression of density of my ‘blind spots’.

And speaking of disease progression, (was that a smooth segue or was that a smooth segue?😁), I do have a couple of things to say about disease progression from that last article I read. Remember the one on GA?

The article opined all the new interest and hoopla about dry AMD came from the success with treating wet. However it wasn’t why I would think. You know, we have scaled that mountain and are looking for new summits sort of thing? Nope, the reason was they discovered that even after severely limiting the development of neovascularization in eyes, the eyes just kept right on progressing with dry AMD! Sorry, darlings.😢 It seems a former wet AMD eye becomes a dry AMD eye.

And dry AMD – to my great chagrin – progresses. How much? I assume it can take the entire macula but I have not seen that definitely stated anywhere. I have seen it stated that it generally stops with the macula. Maybe not such a ‘small’ favor. Could be a lot worse.

The last thing I learned from that article is how best to document disease progression. That is with something called cSLO FAF. Isn’t that informative? Exciting even!

OK, OK, just ‘funning’ with you. I looked it up. Fundus autofluorescence is diagnostic imagery. It detects fluorophores in the retina. Fluorophores being chemicals that re-emit lights shone at them. Research quoted by Wu in Use of Fundus Autofluorescence in AMD said risk of wet AMD can be predicted by a patchy reflection pattern and lots of ‘shimmer’ (my word) at the edge of a patch of geographic atrophy is predictive of cell death and growth of the GA. The more ‘shimmer’ the worse the trouble you are in. [Lin/Linda: We hadn’t had a music reference for some time.  When I hear the word ‘shimmer’, I think of John Lennon’s song “Julia” which uses the word ‘shimmering’, hence this page’s title. ::smile::]

So if anyone throws a bunch of letters ending with FAF at you and says you are going to have that, it may be they are checking for disease progression. I cannot remember ever having one, but it is noninvasive so no biggie. Should not hurt. Just more pretty pictures. Hopefully they will find something good.

Pretty much it for now. Will probably write some more nonsense between now and then, but Wednesday I am going to another support group meeting. They are demonstrating an electronic monocular called a Mojo and I want to see it. Will let you know!

Chat with you later! Continue reading “Shimmering”

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Islands of Damage

I have got about 45 minutes before I need to get ready to walk and go to yoga. Had to go to my third job today, just for the half day. My husband took me up and did errands for the morning, then we went to lunch and picked up my framed photos for the contest in the fall. I am four months ahead of the game but I had to pay extra to get them done on time once before. Not doing that again.

Lin gave me an article entitled “The Journey of ‘Geographic Atrophy’ through Past, Present and Future”. Started reading it …finally… today. First thing I read is GA is ‘end stage’ dry AMD.

I knew it was advanced AMD but never gave a lot of thought to it being end stage. Does ‘end stage’ just mean the last stage or does it mean I have almost reached the end of the deterioration? Need to read on.

There is depigmentation of the cells This is a problem because it is the building up and depletion of pigment that allows us to see. In GA you can get to look in and see choroid blood vessels with no difficulty, as well.

I have seen images of my blood vessels in my choroid. Nothing between them and the camera. Essential, my choroid posed naked.😰

The article said seeing the degree of degeneration even with the new technology is difficult. That is apparently why my retinologist saw no change in my scans even though I was perceiving an increase in density of my left scotoma.

The article also said there is high variability in the location, number and shape of individual lesions. The makes sense considering my blurry spot is up and right when looking at the Amsler Grid and my ‘sweet spot’ for eccentric viewing is lower and a little to the left. In other words if I center my poor, wrecked fovea at 1 or 2 on the clock face, I can see things between 9 and 3, courtesy of my ‘sweet spot’. Other people are different, of course. Putting each fovea on the center of the Amsler grid and seeing what blurs out can help you chart your scotomata. Then, learn to work around them.

I am not sure if this is good or bad. Exception in a limited number of cases, the fovea is spared until the end. Does that mean I am actually more abnormal than I have always believed or does it mean I am at the end of the process? Dunno.

See why I feel like a mushroom???? Jeez. Need information here!

Geographic? It appears early researchers (and by ‘early’ I am referring to the 1970s! Research and discoveries are traveling at light speed and there is no reason to lose hope something else helpful will be discovered soon) thought the sharp demarcation of lesions like ours looked liked borders of islands and continents as drawn on a map. That is where geographical came from. We have islands of damage in seas of healthy tissue.

Ok. Gotta run. There is lots more in the article though. Will let you know. Continue reading “Islands of Damage”

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