Color vision gene therapy?

[FiremedicMike]

I hope this doesn't fall under t he "medical advice" rule, as I'm not asking for advice. I check up every so often to see if any advances for improving the color vision for the color blind, as I am a protanope.

The last time I googled "color blindness cure" within the last few weeks, I found several articles discussing gene therapy curing color vision deficits in monkeys and that FDA testing may be next. Sadly the last discussion was in 2009 with no more recent updates than that.

So I figured I'd ask the only group of ophthalmologists that I had exposure to, you guys. Have any updates occurred on this front, and if not, are any other potential cures or improvements on the horizon?

Thanks for all you do!

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[The Doctor]

I haven't been officially tested for colorblindness, other than a surprise non-consented, non-HIPPA compliant vision screening in front of other applicants without warning at a far-away interview for residency (yes, that was a bummer to cheerfully go along with the discrimination process), but I know that my vision would probably qualify as strongly deuteranomalous. I've read fundus photographs for years without problems and have been assured by others with colorblindness that it shouldn't be an insurmountable issue in ophthalmology. Still, using websites like vischeck.com to simulate colorblindness in photos to show my friends always becomes slightly depressing when they say all the plants and grass look dead/brown, rainbows are less spectacular, and that people look dead because they have no color in their complexions. I understand that protanopia can be more debilitating because you also occasionally have a decrease in brightness of lights at night? I did read that paper on gene therapy in monkeys with interest, particularly because the monkeys brains were able to actually demonstrate cortical plasticity and make use of the new sensory information. I have not heard of any major developments since then. I know there is supposedly a good husband and wife team, I think maybe at UF who actively research colorblindness? I would not hold my breath about a cure during our lifetimes as I do not think the majority of the medical community considers it a pressing issue nor disability worthy of attention. I suspect gene therapy would first be used for more debilitating ocular diseases with single-gene defects and that the potential risk for neoplastic transformation may be too high for using a viral vector to treat colorblindness. It would be cool though to see a sunset over a grassy field the way everyone else does before I die...

 

[FiremedicMike]

I've often wondered if I actually perceive colors as they really are. Of course everyone says that color blind people see colors as "less vivid", but I really have no perspective to say whether that's true or not, as I've never seen colors with "normal vision". Like almost everyone with color vision deficiency, I can see and differentiate many different colors, there is just far less depth to my color perception than many. Of course, as a protanope, certain shades of green look red and certain shades of red look green, purple almost always looks blue, and teal almost always looks like gray (although it's not exactly gray, so I can usually identify it simply because it's "not quite gray").

You mentioned my night vision, yeah it's noticeable to me that I have night vision that is worse than many people. It's not impossible for me to function at night, but it definitely requires more concentration.

It sure would be nice if color vision deficiencies were corrected in our lifetime, but I do agree, it's not really a priority right now.

 

[The Doctor]

Just as a heads up to you, med school will have a few extra challenges with respect to colors. There were 4-5 other colorblind guys in my class and we all independently remarked that drawing blood was difficult because we were unable to visualize veins running under the skin. I have to do my blood draws by palpating the veins and touch alone which isn't a bad way to do it - it still blows my mind though when other people say they can see veins by coloration in the antecubital fossa. You will likely also have trouble with histology (cells and tissue under the microscope with various stains) in your first two years. These difficulties are in no way insurmountable, they just require a little extra thought. 8% of guys have a color vision deficiency so it's not really rare at all, and the fact that a recessive trait has been sustained at such a high allele frequency in the population worldwide over time suggests it may have some evolutionary advantage or at least normal vision does not provide much help with respect to surviving selective pressures.

With regards to your thoughts about how we perceive color, I've wondered the same thing for a while. I agree with how you described your vision - I always say that I'm working with an 8 or 16 crayon box while everyone else has a 64 crayon box with extra shades and some of my crayons are occasionally mislabeled. I used to think that we likely didn't perceive things too terribly differently; after all, humans are very biologically similar from individual to individual, but this Christmas my family and I were talking about christmas decorations. Red bows against green holly and evergreen - it must really pop out to everyone else. I also prefer earth tones and darker rainy days when the trees are wet and look darker. Weird!

 

[Matt Lemelin]

Mike,
I came across your post and had to put in my two cents. I am the CEO of Genevolve Vision Diagnostics and we work with the researchers at the University of Washington that are the worlds authority on color vision and the subject of the gene therapy article you mentioned in 2009. I assure you we have been working diligently to further the discoveries of this dynamic duo. It is a process wrought with regulatory hurdles and scientific challenges to commercialize technologies as advanced as the gene therapy treatment for color vision. I can tell you that the first step in the process is the commercialization of the genetic test for color vision. Our test will be available to clinicians in a month or two and represents the most significant step forward in color vision testing seen for the last 40 years. It also represents more than 10 years of work. Although it is not a treatment, the test reveals extremely valuable information about a patients color vision status never before available. It will be the new gold standard and has the potential to establish a global testing standard. It may interest you that we are working on including a prescription for a color vision optical solution into the treatment plan portion of our test. Our intention is for the contact lens solution to act as a bridge treatment as we advance the gene therapy full blown treatment.

You are right, there is a lack of attention placed on color vision deficiency, we hope to change that with our coming innovations and shed light on the most common genetic disorder in humans. There are two main hurdles we are facing; funding and regulations. We are actively raising investment interest to meet our clinical trial goals and we are enrolling test subjects on our web site, this is so we can approach the FDA and say we have thousands of color blind humans demanding treatment. I am confident that the treatment will be available in your lifetime; join us and spread the word. We'll get there!

Feel free to contact me thru the web site and I will try and respond, this is not one of my usual forums, but I thought I may connect with you and provide a brief update/link.

Thanks, Matt

 

[FiremedicMike]

Wow, that's definitely not what I was expecting, thanks Matt! Can you comment on these lenses? Years ago I tried the colormax lenses and was horribly disappointed to find that their only purpose was to pass color vision tests and that they really did nothing for day to day improvement in color vision perception.

 

[Shnurek]

and the fact that a recessive trait has been sustained at such a high allele frequency in the population worldwide over time suggests it may have some evolutionary advantage or at least normal vision does not provide much help with respect to surviving selective pressures.

Exactly. It is usually people from higher latitudes where color discrimination is not as important because fruits/veggies are less common and therefore do not require identification as frequently whether they are ripe (red) or not (green). Also stemming back from pre-civilization when men were the hunters and women were the gatherers, some women are tetrachromats meaning they have four different types of cones in their retinas. So they can discriminate even more colors than anyone else and this is very useful in botanical discrimination. I also did a lab on color vision where a student with deuteroanomaly was more sensitive to color discrimination at certain wavelengths (around 550-570nm) than a person with normal color vision so like you said there may be some evolutionary advantage to being more sensitive to that range.

The Doctor, I think the color weakness you may have is deuteranomaly as this is the most common deficit but at the same time not really that debilitating. In deuteranomaly the M cones that normally are most sensitive to light of 540nm are shifted in their spectral sensitivity to be closer to the L cones:

(Normal human spectral sensitivity chart)

Wow, that's definitely not what I was expecting, thanks Matt! Can you comment on these lenses? Years ago I tried the colormax lenses and was horribly disappointed to find that their only purpose was to pass color vision tests and that they really did nothing for day to day improvement in color vision perception.

Yes, the X-Chrome lens or the Colormax or whatever you call it can improve your color discrimination ability but it takes a while to get used to and is not that great. Its basically just putting a red lens in front of one eye to shift the cone sensitivity spectrum. So your eyes act as if they have six cones (if you have normal color vision). But your brain cannot really adapt this new information too usefully. So ya just really used to cheat color vision tests.

Matt, I too am interested in this new contact lens solution.

 

[The Doctor]

Thanks for the info, Shnurek. There was an interesting news article today about gene therapy for ophthalmic disease:

http://www.bbc.co.uk/news/health-16942795

 

[PBEA]

Mike,
I came across your post and had to put in my two cents. I am the CEO of Genevolve Vision Diagnostics and we work with the researchers at the University of Washington that are the worlds authority on color vision and the subject of the gene therapy article you mentioned in 2009. I assure you we have been working diligently to further the discoveries of this dynamic duo. It is a process wrought with regulatory hurdles and scientific challenges to commercialize technologies as advanced as the gene therapy treatment for color vision. I can tell you that the first step in the process is the commercialization of the genetic test for color vision. Our test will be available to clinicians in a month or two and represents the most significant step forward in color vision testing seen for the last 40 years. It also represents more than 10 years of work. Although it is not a treatment, the test reveals extremely valuable information about a patients color vision status never before available. It will be the new gold standard and has the potential to establish a global testing standard. It may interest you that we are working on including a prescription for a color vision optical solution into the treatment plan portion of our test. Our intention is for the contact lens solution to act as a bridge treatment as we advance the gene therapy full blown treatment.

You are right, there is a lack of attention placed on color vision deficiency, we hope to change that with our coming innovations and shed light on the most common genetic disorder in humans. There are two main hurdles we are facing; funding and regulations. We are actively raising investment interest to meet our clinical trial goals and we are enrolling test subjects on our web site, this is so we can approach the FDA and say we have thousands of color blind humans demanding treatment. I am confident that the treatment will be available in your lifetime; join us and spread the word. We'll get there!

Feel free to contact me thru the web site and I will try and respond, this is not one of my usual forums, but I thought I may connect with you and provide a brief update/link.

Thanks, Matt

I'd also like to hear more about the "contact lens solution" and/or the "color vision optical solution ", could you elaborate?

Thanks

 

[Matt Lemelin]

I appreciate all of your interest in the contact lens solution we are working on. As a courtesy, I want to provide all those interested in these lenses with the most accurate and scientifically validated information as possible. With that being said, there is simply some things I am unable to delve into at this time since we are in the development stage. I see two main problems with the color vision aids currently on the market, firstly, the retail prices are expensive and the overall value comes into question, for example the Colormax lens can cost thousands and make little change to a persons ability to discriminate colors. Secondly, how the lenses are prescribed, because color vision deficiency is highly variable it is a challenge to prescribe the correct "level" of tint. The current testing methods, for ex. the Ishihara Test was never designed to gauge type or severity. I am baffled with how a tinted lens can be accurately prescribed with such a screener. It leads me to believe that it is a one size fits all approach.
We are working on coupling a tinted lens prescription within the treatment plan portion of the results from our genetic test. Since our genetic test can determine the exact type of deficiency and the precise extent/severity, we are confident, by using the spectral peaks of the photoreceptors, that we can accurately prescribe the correct level of tint for the maximum benefit. The other part is to offer the solution at a reasonable price. I would be interested to know what you folks would pay for an accurate lens solution that works. My target would be around $700 including physician compensation. A bi-product of this prescription method would be that virtually anyone around the world could order the genetic test and have a lens prescription that they could order by mail; versus trying to track down a non-existent eye doctor in their country to help them. I would also appreciate your view on that angle as well.
Ultimately, everyone who has a color vision deficiency needs and deserves to have accurate information about the nature of their color vision. Unfortunately, even highly trained optometrists and ophthalmologists are unable to objectively discuss color vision deficiency with their patients because of a lack of a proper diagnosis. A growing number of everyday activities and professions rely on color vision. Presently, the most widely used test of color blindness is Ishihara's Test. Japanese ophthalmologist, Dr. Shinobu Ishiáhaára, introduced this in 1917. It is long out dated and does not reflect any of our current knowledge of the nature of colorblindness. It fails to test for one of the major forms of colorblindness (blue-yellow) completely. It was not designed to distinguish among different levels of severity of color vision defect. People with the minimal and extreme forms receive the same diagnosis with the Ishihara. Moreover, people, especially children, can be diagnosed as being colorblind when they are not. The use of Ishihara's test has, in many ways, done more harm than good. Our genetic test represents the natural progression of color vision testing. Over the years, we have received emails, calls and letters from thousands of frustrated colorblind people. The outcry from patients together with feedback from practicing clinicians who have indicated that a genetic test will change everything for them and that they would use it, if it was available, motivated us to develop the test as a commercial product.
Ultimately, a genetic test for colorblindness will be the standard of care administered to all patients. From a clinical point of view, it is just as important to know a patient has normal color vision as it is to know the details of a color vision defect. This is because many vision problems have a color vision abnormality as an early symptom. In order to diagnose and treat such conditions, it is critical to know the patients genetic color vision status. Thus, it is important to understand that potential consumers of the test are not just the world's colorblind people--it is everyone.
As I explained before, our ultimate goal is to have a safe cure available to humans. This process will likely take years, but we think that having a accurate and effective bridge contact lens solution available now would be neat. Also, we now know that the implications for colorblindness on a person's life are dramatically dependent on the type and severity, which can be determined accurately with a genetic test. I encourage all interested in learning more to review our sample diagnosis report at : http://www.genevolve.com/genetic-test.html
We welcome any feedback especially on the treatment plan portion of the sample report.
-Matt

 

[FiremedicMike]

At $700, I would be a part of that project the second it became available. I believe the biggest turn off for me when I tried colormax before (from a local provider, now only currently available from Azman himself) is that the practitioner (an OD) didn't really seem to be familiar with the product or how to find the right tint for me. At one point he left me in the room with the box full of tints and told me to find the tint that allowed me to see all frames of the Ichihara test while he went and saw other patients.. Combine that with the $7000 price tag (not covered by insurance) and I was out.

I will be keeping a close eye on this thread and your company, and I am not going to lie I am actually becoming encouraged that I may have normal color perception in my lifetime, I hope you can deliver!

 

[Shnurek]

I believe the biggest turn off for me when I tried colormax before (from a local provider, now only currently available from Azman himself) is that the practitioner (an OD) didn't really seem to be familiar with the product or how to find the right tint for me. At one point he left me in the room with the box full of tints and told me to find the tint that allowed me to see all frames of the Ichihara test while he went and saw other patients.. Combine that with the $7000 price tag (not covered by insurance) and I was out.

Yes, it has to be tailored to you. Dr. Azman's son is my classmate and maybe I can find out more information for you. He tells me that each examination that his father does takes hours and it has to do with specific wavelengths that are slowly bracketed to work best for your unique color vision deficiency. What that doctor did when he left you in the room is uncalled for and good thing you left.

 

[PBEA]

couldnt the use of an anomaloscope help determine the best wavelength?

 

[Shnurek]

couldnt the use of an anomaloscope help determine the best wavelength?

Ehhh, I don't know if its specificity is so good. And there are only a few in world, if you are referring to the Nagel Anomaloscope. I'll have to ask around, don't really know the procedure yet.

 

[Matt Lemelin]

I do want to provide hope, but I dont want you to get your hopes up. This is a likely a long process to reach a full blown cure. Hopefully the test and "bridge treatment" lens will be available in a matter of months, just continue to follow us on www.genevolve.com. If you come across any colorblind investor types please send them our way We are doing everything we can to deliver. Glad your in at $700 not $7000! Can I ask what type of doctors you are training to become?

 

[Matt Lemelin]

The anomaloscope is indeed a rare machine and as the "current" (about to change) gold standard for color vision testing it has major calibration issues and requires highly trained administrators. If you are tested on one consider yourself lucky. It can only return a mild-medium or strong severity rating so the specificity is fair at best. As far as determining wavelength to ultimately prescribe an accurate tint, I am not sure on that one. Without researching further, I would have to respond with--it would take a considerable amount of experimentation to figure it out. But I suppose its possible. However, widespread commercial implementation would be near impossible. If you think of it this way, the genetic test is like putting a anomaloscope in the hands of every eye practitioner minus the training and calibration issues...sounds pretty cool to me. Molecular medicine, the final frontier??

 

[Shnurek]

Hey, sign the petition

http://www.change.org/petitions/genetic-testing-optometry-our-time-is-now