Assistive Technology

Below is a link to assistive technology for those with low vision. You may be able to have the costs of purchasing some of this equipment defrayed by yoru local state rehabilitation agency.

http://www.mdsupport.org/resources/techproducts.html

Lutein Supplementation and RP

Below are the results of a study on Lutein supplementation and RP. This is not news, the late Grace Halloran advocated this twenty years ago. However, this is the first time a formal study has been completed. Grace advised me to do this almost ten years ago. I feel, if I had been disciplined and stayed the course, my vision would be much better.
http://www.ncbi.nlm.nih.gov/pubmed/16759390?ordinalpos=4&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DefaultReportPanel.Pubmed_RVDocSum

http://ghr.nlm.nih.gov/condition=neuropathyataxiaandretinitispigmentosa

Lipid Disorders and RP

There is a connection between the amino acid taurine and the abosrption of fat soluable vitamins, like Vitamin A. I remember reading somewhere, years ago, that RP is associated with lipid disorders. I also know of a naturopath who does blood work on a wide variety of people who have a variety of eye conditions. He has stated that, without fail, there are blood sugar abnormalities.

With regards to lipid processing, This makes sense. Faulty uptake of the amino acid taurine would lead to the malabsorption of Vitamin A, This leads to a breakdown of the chemistry needed in order to maintain retinal function which leads to cell death of the photoreceptors....Explains why Berson found that mega supplementation with Vitamin A has some impact on maintaining visual function some of the time. However, mega supplementation does not get the job done nor does it addres the underlying metabolic deficit which makes it necessary.

Taurine and Retinal Disease- Patent

http://www.wipo.int/pctdb/en/wo.jsp?IA=US1998026106&DISPLAY=DESC

http://www.biomedexperts.com/Profile.bme/1110527/AM_Petrosian

Petrosian's theory on the relationship between taurine and fat-soluable vitamins essential for vision:

http://www.ncbi.nlm.nih.gov/pubmed/11128549?ordinalpos=3&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DefaultReportPanel.Pubmed_RVDocSum

Would have been nice if they had not tested tuarine along with both Vitamin E and Dilitiazem, but interesting all the same:

http://cat.inist.fr/?aModele=afficheN&cpsidt=13940577

Phytochemicals

http://www.phytochemicals.info/

Two books on my wish list:

http://www.amazon.com/Nutrigenetics-Nutrigenomics-Review-Nutrition-Dietetics/dp/3805577826/ref=sr_11_1?ie=UTF8&qid=1220925547&sr=11-1

http://www.amazon.com/Phytochemicals-Nutrient-Gene-Interactions-Mark-Meskin/dp/0849341809/ref=sid_dp_dp

http://www.ncbi.nlm.nih.gov/pubmed/17045449

Dr. Amy Yasko claims to already work with nutrient-gene interactions in her practice. Hmm.....She could be ahead of her time or making false claims. Either way the premise is interesting.

Beauty and the Blind

A touching article about a woman who, after losing her sight, still is profoundly struck by beauty.

http://nfb.org/legacy/bm/bm03/bm0306/bm030611.htm

I ran across this article while researching something unrelated. It spoke deeply to me. Recently, I had a dream in which I was asking God about human suffering and pain. One of humanity's ongoing existential struggles, no doubt. Being human, I was asking God about my particular struggle, which, in the scope of human suffering, is truly nothing. But, I digress.

In this dream, God shows me a caterpillar inching its' way up a green stalk. He says, "That is you," I looked at the caterpillar make its' way, painfully slowly, up the green plant's stalk. He asked me, "What happens if the caterpillar turns around?" I answered that, I guess, it would just return to the grass. He agreed and then asked me to watch the caterpillar once more. So, I did. It reached the end of the stalk and made a cacoon. After being in total darkness, it emerges as a fragile, stained glass, backlit, ethereal looking butterfly. It was the most fragile and finely crafted glass I have ever seen, yet the creature was animate, flitting about in the night sky. Its' delicate perfection was apparent not only in its fragility but the incredibly intense colors: greens, violets, vibrant shades of orange contrasted by the coolest of electric blues.

Later in the week, my daughter went to her favorite art studio with her babysitter. She came home and gave me her creation. She said, "Look Mama! A mariposa for you!" She created a gorgeous, colorful butterfly whose vivid oranges, violets and blues are simply glorious! Did she overhear me mention the dream to my husband? Doubtful, but I suppose it is possible. Does it matter? Not at all...

I find a little bit of HOPE to be similar to putting a small amount of food coloring in a glass of water. It does not take much to color the water to an intense hue. Hope is the same way. It does not take a lot to transform an existence in to a beautiful, vibrant life regardless if one can perceive the colors or not.

Swimming Blind

http://www.cbn.com/spirituallife/devotions/aspin_swimmingblind.aspx

Apocynin

http://www.answers.com/topic/apocynin-1

Apocynin is isolated from both the kurroa and Canadian hemp roots:

http://riverssourcebotanicals.com/index.php

http://www.tattvasherbs.com/liversupport.htm?gclid=CNrUguiYk5UCFQmdnAodZDAFgw

http://www.vitacost.com/Healthnotes/Herb/Picrorhiza.aspx

http://www.vedaliving.com/store/product_info.php?products_id=103

NO Synthase and RP

A possible adjunct to antioxidant therapy in RP which targets the underlying cause of excessive oxidative stress in the retina..

http://groups.google.com/group/sci.med/browse_thread/thread/d8c985e6ae69eed9

Antioxidants in Combination Fight RP

http://www.ncbi.nlm.nih.gov/pubmed/17293057?ordinalpos=2&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum

Copper Toxicity and RP

I found the articles below interesting in light of the Vitamin A data from the early 1990s. Zinc is required to metabolize Vitamin A. If copper levels are high, zinc is low, which would explain the need for excess Vitamin A. Supplementing with Vitamin A has been advised for years. However, there are limitations because of its potential toxicity. So, if there were an issue with the metabolism of trace minerals which impact Vitamin A utilization, then there would be some interesting possible therapeutic potential.

Copper Toxicity and RP:

http://www.ijo.in/article.asp?issn=0301-4738;year=1979;volume=27;issue=4;spage=170;epage=173;aulast=Gahlot

Study of American patients showing no abnormality of copper metabolism:

http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1043173

Relationship between zinc and copper:

http://www.drkaslow.com/html/zinc-copper_imbalances.html

http://lpi.oregonstate.edu/infocenter/minerals/zinc/

Vitamin A and zinc, metabolic relationship:

http://64.233.179.104/scholar?hl=en&lr=&q=cache:2GP9vDa9av4J:www.idpas.org/pdf/2917_Zinc_vitaminA_interaction.pdf+author:%22Christian%22+intitle:%22Interactions+between+zinc+and+vitamin+A:+an+update%22+

Chinese abstract on zinc and RP:

http://www.ncbi.nlm.nih.gov/pubmed/2289582

Taurine is interesting in that, cats deprived of taurine will develop a condition similar to RP over time. In Australia, they accidentally received dog food in bags marked as cat food. Apparently the dog food did not have taurine in it and the cats require taurine for normal vision. They developed a disease similar in nature to what we call RP.

So, some researchers tested the blood levels of RP patients for taurine levels. The levels were normal, but apparently the uptake is not. So something in the pathway involving the metabolism of this amino acid is not functioning. In the post entitled "Successful Reversal of RP", taurine was used.

Also, in developing countries, people will go blind simply because they do not have adequate Vitamin A intake. It is interesting that, to date, the only research that has resulted in a therapy that helps some people, some of the time, is based on large doses of Vitamin A. That seems to be a cue to a metabolic issue (s) at least for some people with the diverse group of genetic mutations that contribute to a full blown case of RP.

Taurine Uptake and RP:

http://www.ncbi.nlm.nih.gov/pubmed/85058

http://www.fasebj.org/cgi/content/full/16/2/231

http://bjo.bmj.com/cgi/content/abstract/66/12/771

Vitamin A and the chemistry of vision:

http://www.elmhurst.edu/~chm/vchembook/532vitaminA.html

Anatomy of the Eye

http://www.mdsupport.org/anatomy.html

My Acetazolamide Case Study

I decided to do my own replication of the University College London acetazolamide case study (for more information, see my 2/15 post). This is not something to be entered in to on a whim. Acetazolamide is a hard core drug and I had to get blood work done regularly to monitor potassium levels and red blood cell count among other things. It has some very scary possible side effects including bone marrow stopping the production of red blood cells. It is a diuretic and it is important to monitor kidney function. So, one must commit to regular blood work. As an aside, I wish someone would attach a statistical measure to possible side effects. Then, it would be easier to make educated decisions. For example, if there is some extreme side effect, it would be helpful to know if 5% or 46% people in the clinical trial experienced it. Okay, I am off that soap box for now.

I started my dosing at 250 mg. on April 15th. I slowly ramped up to 500 mg. Then, I went to 1000 mg. for one month. I noticed colors looked brighter. I also had an improvement in my fields. I doubted if anything; other than increased color vision, was happening until I got off the drug. Then I realized that, indeed, it had helped. One would expect it to help the clarity of vision if I had any residual CME.

But, I also noticed an increase in my ability to find things. Do not get me wrong, I was still quite impaired. But, I did not run in to things in my own home. My shins had no bruises and I could wear skirts without looking like I was married to an abusive little person. I did not collide with door jambs. I could find most anything I needed independently. Still, I doubted my improvement. Now, that I am off the medication and have regressed, I notice that it was helpful in ways one would not expect if it simply resolved CME.

So, why did I discontinue using the drug? Well, I felt like absolute…..crud. At first, the 1000 mg dosing was fine. Besides having pins and needles in my extremities, being a little more tired than usual and everything tasting like metal, life was good. Then I started to become very fatigued. Getting out of bed in the morning became an act of will. If I did not have responsibilities, I probably would have spent the day in sweat pants (always my data point for a major case of the blahs). I also started having, shall we use a nice medical euphemism and say “gastrointestinal distress" on an all too regular basis.

So, better vision is not so useful when you feel awful. But, it does make me relatively optimistic about the potential of the Brimonidine Tartrate implant being developed by Allergan. For more information see the post from 4/20.

I think back to everything I have tried, from acupuncture to stem cell implants. Glaucoma drugs to microcurrent……there always seems to be a bit of efficacy to each. I think of microcurrent’s basis in sending an electrical current to the retina. Then, I see the implantable chip which generates electricity and stimulates the retina. Acupuncture is also an electrical process. So, there are some interesting parallels. My fields responded to acetazolamide. If it could be delivered locally, then we would have a more realistic therapeutic option. But, the devil is always in the details.

Now it is time to soldier on and be grateful for the desire to do so. An old friend called me, he is in his late thirties, a single dad and dying of a rare disease for which not ONE clinical trial has been conducted. So, we are relatively blessed compared to many. But, it is only human to lose sight of that when one is losing sight.

Muller Cells and RP

Scientists at Schepens, at Harvard, have discovered that Muller cells within our own retinas may have the capacity to turn in to various types of cells. According to this study, these cells have the possible potential of healing diseased retinas.

Why wouldn’t our bodies have the potential to heal themselves in this context? The human body is a miracle. A mundane miracle, but a miracle all the same.

http://www.schepens.harvard.edu/press_releases/march_24_2008.html

Fetal RPE Transplantation

Dr. Norman Radtke is doing RPE transplantation again. When I researched this procedure three years ago, he and his team were transplanting one sheet of fetal retinal pigment epithelial cells (RPE) in to the diseased retinas of people with RP and ARMD. He is now doing transplants with two sheets of cells, both neural and RPE cells. He has some recent case study data on his site.

If you go to the “clinical trials” section of this informative website, you will find information on the trial. He also has a section entitled “outside trials” as well as “trial bulletins”. Both are excellent resources for keeping up with the latest in retinal research, regardless of who is funding it. The “bulletins” section is one I find particularly notable.

http://www.rvrc.com/_drradtke.cfm

I did find some published work by Dr. Radtke on this procedure.

This article was published in 2004, and reflects the results when transplanting one sheet of fetal RPE cells.

http://www.ncbi.nlm.nih.gov/pubmed/15302656?ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum

Information from 2002:

http://www.ncbi.nlm.nih.gov/pubmed/11931789?ordinalpos=2&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum

From 1999:

http://lib.bioinfo.pl/meid:112531

A Swedish rabbit study on "full thickness implant", which I believe may be both the RPE and neural retina layers.

http://content.karger.com/ProdukteDB/produkte.asp?Aktion=ShowFulltext&ArtikelNr=27472&Ausgabe=226339&ProduktNr=224269

Swedish pigs:

http://www.ncbi.nlm.nih.gov/pubmed/17072635?ordinalpos=9&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum
An 2002 overview of retinal transplantation:

http://www.djo.harvard.edu/site.php?url=/physicians/oa/379


I keep an eye on Steve Wynn, Las Vegas casino developer and gazillionaire, since he has RP and is one of the wealthiest people on the planet. In the blogosphere, there are numerous references to a "government approved experimental eye surgery" he had done in May of 2007 at Johns Hopkins. So, I tried to find any trials at Wilmer (Johns Hopkins) that are recruiting RP patients to see if I could make an educated guess as to which procedure he had done. I did not have much success. But, I will keep searching. According to the articles in the blogosphere (always suspect), he disclosed this surgery plan to his dealers on the eve of a union vote. They still unionized, but the information was made public. If you believe what you read, anyway.

Obviously, there are numerous ethical concerns when using fetal retinal tissue from aborted babies. Someone, I believe it may have been Mark Twain, stated something along the lines of, "Ethics are the luxury of the well fed." In other words, it is easy to extol lofty ideals and virtue when in a position of relative ease. The real test comes when "the rubber hits the road" and life becomes more challenging.

My personal opinion is, until you have navigated a busy intersection with a toilet paper roll encircling each eye and a stick, then you do not get an opinion. Okay, maybe you can have one. But, do not express it. At least, not around me, unless you come bearing dark chocolate and red wine. :)

Gene Therapy and RP

This is old news at this point, but I just have not found the time to write about it. Below is the article published in the New England Journal of Medicine regarding the recent gene therapy trial for LCA, a severe, early-onset form of RP.

http://content.nejm.org/cgi/content/full/NEJMoa0802268

There have been press releases issued to major news outlets. You can see the media coverage at the FFB website:

http://www.blindness.org/

It is worth the time to read the academic article. While it is difficult for a layman to understand all of the jargon, it gives a realistic picture of the actual results achieved.

Yes, it is very exciting. But, it is the result of, at least in the study published above, one person's improvement in one aspect of vision, contrast sensitivity. Apparently there is the study above as well as another one using a different set of three adults. This is the only published peer reviewed article I have been able to locate in PubMed (thanks for the share, G.). And, as all of the scientific types are quick to remind us RPers, one person's experience does not usually mean much and we should not invest too much time in being hopeful. Unless it is gene therapy, apparently.

I suppose I must be missing something. It certainly would not be the first time. Maybe the other study, which I cannot locate, had better results.

This is the first gene therapy trial, to my knowledge, done for a condition which is not fatal. I have to admit, I am floored the FDA approved gene therapy for a non-lethal condition. The exciting thing about this trial, based on the little I know about gene therapy, is no one had "adverse events", like dying, from the viral vector used.

A vector is a virus used to carry the normal copy of the gene to the target gene. The tricky part is using a virus that is not harmful to humans. In other (non RP related) gene therapy trials in the past, people have died from immune reactions resulting from the virus. This may be worth the risk to someone dying of a fatal condition. There is also the risk of the replacement gene not just going to the target area and inserting itself in other cells, leading to cancers.

However, by some miracle, these scientists actually were able to get this trial approved in this country for a disease that is not killing people. So, in the scientific community, that must make them rock stars. I am not talking some bubble gum boy band either. More like Keith Richards, able to defy the odds and astonish medical professionals time and time again.

Aging rock star jokes aside, It seems like there are multiple standards at work. Again, I am sure I am missing something. But, take our UCL acetazolamide case study. That is a case of one person having improvements in contrast vision. However, there were no press releases, no buzz or continued funding. Granted, her gains were not nearly as dramatic as the gains of the subject in this study.

But, the results obtained by one young person in the study are very encouraging to me. The increases in his ability to detect contrast are undeniable and unlikely to be explained away. The fact that the dogs who have received the same procedure, eight years ago, have maintained their gains is even more encouraging. And, this is gene therapy's first barbecue for RP in humans. This was just to test safety, and that anyone had any benefit at the most conservative dosing level is encouraging.

My personal belief is gene therapy may be able to help me one day maintain the results of a stem cell procedure. I think it holds an enormous amount of potential for young people who are newly diagnosed and identified. Hopefully the incredibly brave young people who participated in this study will have more improvement and stable general health.

The "subjects" are courageous, pioneering and inspiring. With all of the things I have tried, gene therapy would still terrify me, regardless of who was doing it. Kudos to the researchers as well. Firstly, for getting results. Secondly, for managing to get a trial with this amount of inherent risk done in this country. It has no doubt been a long, laborious road and I look forward to more good news.

Yet Another Glaucoma Drug and RP

Below is some information on yet another glaucoma drug that has some result in RP. Keep in mind the drug in this study was delivered topically. So, in actuality, it is a relatively small amount of medication that actually makes it to the target area.

If you check out http://www.clinicaltrials.gov/ and enter "retinitis pigmentosa", look for the clinical trial for the "Brimonidine Tartrate Implant". Brimonidine is a glaucoma drug. You will see the drug manufacturer, Allergan, has invested the research and development dollars to create a retinal drug delivery system in the form of an implant. The drug of choice has traditionally been used for glaucoma.This study is going to take place in Europe.

I find this of particular interest given the acetazolamide (another glaucoma drug) case study from the University of London. No one has ever accurately replicated that woman's experience in the form of a larger scale pilot study. In the one attempt, the dosing was incorrect and the study was prematurely terminated.

Now, another glaucoma drug is emerging and a company has invested major funds in an implant in order to deliver it directly to the retinas of RPers.

Interesting....

Below is a link to a pilot study done in Israel. Its results will not enthrall, but keep in mind this is eye drops, not even a systemic delivery in the form of an oral pill.

http://www.liebertonline.com/doi/abs/10.1089/jop.2007.0022