Gene Therapy Restores Sight To Blind 157
An anonymous reader writes "Looks like we have found a cure for genetic blindness (clinical trial — abstract — paper [PDF] — ABC News video). This gene therapy treatment increases both cone and rod photoreceptor-based vision. These engineered viruses are implanted to do our bidding to restore vision. Clinical trials on 6 children and young people proved the therapy and didn't find any notable side effects." Any blind person, especially any adapted and competent one, who wants to gain the sense of sight would be well advised to study Oliver Sachs's classic piece "To See and Not See."
um... (Score:2, Funny)
How?
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I think OP means Oliver Sacks.
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Ten "gets it" points for you, and a "whoosh" for the other guy. :)
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Re:um... (Score:4, Insightful)
Not to be blunt, but seriously...
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> How?
The same way any blind person would read /.
Re:um... (Score:5, Funny)
I see I see.... (Score:2)
Until now when he CAN actually say it and follow it up with high fives to everyone.
Every time I get cranky about all the dumb shit that we do in this day and age, I also think about all the cool and fantastic things we can do. It's a funny balance.
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"'Pazhyviom, uvidim', kak skazal slepoy."
A couple of cow orkers of mine say this Russian line all the time. Sadly, it doesn't sound as good in English: "we'll live ( = let's wait), we'll see, as said the blind guy".
From the Blind Man (Score:1)
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Myopia (Score:2, Interesting)
Could this apply to myopia too? Could it be an option to LASIK?
Re:Myopia (Score:4, Informative)
I wish, but ...
When the rods/cones exist in the retina, and the nervous system connections to the brain, but the photo-chemical pathways inside the rods/cones are blocked, this therapy unblocks the chemical error, letting the other components work.
For myopics the damage is different. Our eyeballs are not spherical, so the lens and cornea, matched to a spherical retina surface cannot focus incoming light "incorrectly" onto our distorted retinas. our best bet is still prosthetic. Although the cornea can be hacked up to make some correction, it is not really the issue (it is for astigmatism). What we need are lenses designed for non-spherical retinas. This can emulated by glasses/contacts, but the real solution would be corrective lens implants.
Current materials are not as flexible as natural lenses, so cannot be complete replacements. However, lenses can be shaped for accurate vision at longer than reading distances, or within reading-to-desktop range. As we get older and cataracts appear, there is a stronger justification to replace the lenses, and many older adults no longer have to wear glasses due to replacement lenses. I'm really hoping that by the time I get to replacement, the materials will have been improved so that I can not only stop wearing contacts, but get rid of the reading glasses, too.
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For myopics the damage is different. Our eyeballs are not spherical, so the lens and cornea, matched to a spherical retina surface cannot focus incoming light "incorrectly" onto our distorted retinas. our best bet is still prosthetic. Although the cornea can be hacked up to make some correction, it is not really the issue (it is for astigmatism).
What I want to know is: how did this situation get like this in the first place? Very large numbers of humans have poor eyesight that requires correction. Animals
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As we get older and cataracts appear,
I know for a fact, that this has nothing to do with getting old. But with having eaten junk for so long, that you are old.
But hey, it’s easier to just make up excuses about how this is “normal”. It is not. And I have thousands of patients to prove it.
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Current materials are not as flexible as natural lenses, so cannot be complete replacements.
When you reach middle age, the eye's lens hardens, making reading glasses (or bifocals if you're nearsighted) necessary.
A new implant came on the market in 2003 when the FDA approved the CrystaLens. Although designed for cataracts, it also corrects myopia, presbyopia, and astigmatism. Most patients get better than 20/25 vision after the surgery, which replaces the eye's natural lens with the artificial lens.
It sits o
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Unfortunately, the higher-end lens replacements are still often not covered by insurance. I'm glad you got yours. I wish more people would pay the extra $1900 out of pocket like your journal post mentions.
Interestingly enough, my sister's eyes were perfectly shaped to need no replacement lens, since any of the less expensive replacements would have given her no advantage over no lens at all. You have to be really myopic for that to work, though, and in her case she's already had retinal reattachment done on
Re:Myopia (Score:5, Interesting)
There's a "design flaw" in the lens. Unlike bones, that have cells that both remove and replace bone, the lenses only have cells that smooth the surface by adding more material. After a few decades, the lens is too thick to be stretched for close focus, so we lose that ability, although distance vision may still be as good as when young.
Some people can tolerate a pair of replacement lenses, one near-focusable for reading and one far-focusable, between them covering the full range of vision. IIRC, the dominant eye is close-focusable. Contacts are available in the same arrangement, but, again, not everyone can tolerate them.
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There are intraocular lenses now that allow for focusing in the same manner as a natural lens. See: http://en.wikipedia.org/wiki/Intraocular_lens#Accommodating_IOLs [wikipedia.org]
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Cool. Thanks for the link.
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Trust me, there's a big difference between a medical cure existing and actually becoming available to the average Joe. It'll be DECADES at least before this is available, to all but a few people who happen to have the perfect profile and know one of the researchers. Laser eye surgery is largely proven and dependable, and available here and now, so you're much better off just going with that.
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Surgery, while ever so slightly barbaric(especially in places that you have to break bones to get to) has the advantage of being mostly predictable. The risks aren't zero, and some people heal better than others; but it is basically moving meat around.
Genetic modification, even when the germline isn't involved, is less well behaved. Sometimes it works, sometimes ex
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Trust me, there's a big difference between a medical cure existing and actually becoming available to the average Joe. It'll be DECADES at least before this is available, to all but a few people who happen to have the perfect profile and know one of the researchers.
While this may be true for this treatment, I wouldn't say it's true for all treatments. As with anything else, follow the money. Laser eye surgery (which is for an entirely different problem than this genetic treatment anyway) has improved by l
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No, myopia has nothing to do with the retina. Good thing for the myopic, as retinal problems can't be fixed by corrective lenses.
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To be more exact, myopia isn't caused by a fault of the retina (other than perhaps the retina being misshapen along with the rest of the eye), but extreme cases of myopia can be a risk factor for certain problems with the retina. In particular, there's a link between myopia and retinal detachment [google.com].
That fact still doesn't mean that rod and cone counts have anything to do with myopia. There really is nothing to do with genetic predisposition to low receptors and myopia as far as I've ever heard. The radically
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but extreme cases of myopia can be a risk factor for certain problems with the retina. In particular, there's a link between myopia and retinal detachment.
Yes, my surgeon told me that when I had a detached retina [slashdot.org]. I was EXTREMELY lucky, it didn't cost me any vision, and the surgery got rid of all the "floaters".
coloublind (Score:3, Interesting)
"...if only you could see what I've seen with your eyes!"
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I agree. I can hardly see into the ultraviolet and infared and I would love to be able to see microwaves...
Re:coloublind (Score:4, Interesting)
I haven't noticed much improvement along those lines (I haven't done any empirical studies myself) although my night vision is superb compared with how it was at any time prior to the surgery.
Re:coloublind (Score:4, Informative)
Are you sure it is infrared? I had heard that loss of your lens let you see further into ultraviolet (http://en.wikipedia.org/wiki/Aphakia).
Re:coloublind (Score:4, Informative)
Re:coloublind (Score:5, Informative)
ttp://www.livescience.com/history/090429-military-experiment-1.html
The U.S. Navy wanted to boost sailors' night vision so they could spot infrared signal lights during World War II. However, infrared wavelengths are normally beyond the sensitivity of human eyes. Scientists knew vitamin A contained part of a specialized light-sensitive molecule in the eye's receptors, and wondered if an alternate form of vitamin A could promote different light sensitivity in the eye. They fed volunteers supplements made from the livers of walleyed pikes, and the volunteers' vision began changing over several months to extend into the infrared region. Such early success went down the drain after other researchers developed an electronic snooperscope to see infrared, and the human study was abandoned. Other nations also played with vitamin A during World War II - Japan fed its pilots a preparation that boosted vitamin A absorption, and saw their night vision improve by 100 percent in some cases.
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Re:coloublind (Score:4, Informative)
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which had the added benefit of encouraging children to eat healthy food
And, incidentally, food you could get with rationing.
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Re:coloublind (Score:4, Funny)
Kitchen tours. $10 a pop. Kids unwelcome.
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Walk through a forest, in pitch black darkness. Take out your cellphone and let the backlight shine into one of your eyes. Literally place your cellphone's screen onto your skin and look around with your left eye still open also (or the other way around).
I don't know why the hell this effect works, but it's some damn good nightvision! (or some kind of mindtrick that amplifies tiny differences in light).
Always wondered why that happened.
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But there were tricks like using genes from glow-worms to make cells in other organisms glow. Then I wondered if you could do this with neurons. Make them glow when they change state and use the emitted photons to record the information flow.
Maybe you could find a way for photoreceptors to directly sense magnetic fields by embedding little chunks of magnetite in them, then feed data in to it with an AC field.
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Not only does the concept work, mice with fiber lines coupled directly to their brain, complete with a slightly sinister blue glow coming out of their skulls, look utterly badass...
you are correct (Score:2, Interesting)
I have the exact same situation. Even down to the not learning as much about electronics back in the day because I would miss on wire colors and resistor color bands etc. The other thing you mention, in seeing detail in the field is also correct. I can see animals and oddball stuff hidden in the bushes etc quite well. Even beat my dogs a lot when we are out walking around, because my brain doesn't think in color so much as it does shapes/lines, etc. I only see some very "loud" and brilliant basic colors, sh
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You can come back to electronics if you want, especially if you stick with surface-mount. Surface-mount resistors have their values printed on them in numerals, so you just need a magnifying glass or good nearsightedness to read them. And while it's handy being able to see wire colors, you can trace them out with an ohmmeter instead.
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Well, yeah, as long as you use the larger sizes. :-)
When you get down to the 0402, 0201, or 01005 sizes a microscope comes in handy.
http://www.panasonic.com/industrial/components/pdf/AOA0000CE1.pdf [panasonic.com]
Chip dimensions are shown on page 2.
Blindness (Score:5, Interesting)
Losing sight has always been my greatest fear. I understand a lot of blind people can live perfectly fine lives, but I can't think of many worse futures. (I know the news are about genetic blindness, but still).
The day someone comes up with a way of completely bypassing the eyes, for example by perfecting the technology of connecting cameras directly to the brain, will feel as important for me as the day someone finds a way of curing all medular wounds.
It may sound stupid but one of the few reasons I've got for accumulating more money is being able to pay the medicine I hope will exist by the time my body starts failing in those kind of ways.
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Dont be stupid, you dont need to worry about such things!
God created faith healing for a reason!
Praise the Lord Hallelujah! Walk the righteous path and go with Jesus for he is your one true savior!
Re:Blindness (Score:5, Insightful)
Losing sight has always been my greatest fear. I understand a lot of blind people can live perfectly fine lives, but I can't think of many worse futures
Agree wholeheartedly. I was blind for a year, and was cured. Once you lose your sight you would crawl through broken glass if it meant you could get your eyesight back.
I can see my wife's face, and my daughters are beautiful. Bring on science.
Re:Blindness (Score:5, Funny)
Easy for you to say, my wife's got the face of a saint - a Saint Bernard.
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Once you lose your sight you would crawl through broken glass if it meant you could get your eyesight back.
Maybe. Maybe not. If you are used to your whole life with sight and then lose it, that is probably a true statement. If you lose your sight when you are young, you may find the world to be a very harsh place and may not appreciate or enjoy having your sight. (I'm guessing that's what the article is about that is linked in the summary.)
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You heretic. You don't need science, you just need to pray to God to cure your blindness. If you aren't cured, that just means you don't have enough faith, and don't deserve to be cured.
We need to throw out all this science stuff, and go back to faith. Life was much better in Europe around 500-1000 AD when people had faith.
()
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Whoops, there was supposed to be a /sarcasm tag there.
Re:Blindness (Score:5, Funny)
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Man, I'm screwed.
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Losing sight has always been my greatest fear. I understand a lot of blind people can live perfectly fine lives, but I can't think of many worse futures.
Interestingly, my biggest worry if I lost sight would be to figure out how to successfully use my synthesizers. I've made music for fun since my teens, and if I had to choose I'd probably rather be blind than deaf. Not that either option is in any way desirable, but still...
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Yes, personally, much as I love my music, i'd have to take deafness
Tom...
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Losing sight has always been my greatest fear.
Don't underestimate deafness. Allegedly it's worse than blindness.
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> It may sound stupid but one of the few reasons I've got for accumulating more
> money is being able to pay the medicine I hope will exist by the time my body
> starts failing in those kind of ways.
Hehe, your post reminded me the movie "The Island".
http://www.imdb.com/title/tt0399201/ [imdb.com]
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That's not a cure. Sorry for the car analogy, but it's like fixing a broken car by crushing it and just building a new one. There's a large energy cost to this.
And unlike cars, there's a big difference between humans and simple machines like cars: experience and education are what make us useful. Those things take a lot of time and work to gain. So if you toss out old people and replace them with young people, for them to be as useful, you have to spend a couple of decades raising them to adulthood and
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It may sound stupid but one of the few reasons I've got for accumulating more money is being able to pay the medicine I hope will exist by the time my body starts failing in those kind of ways.
Ahh, youth. I'm not mocking, just reminiscing about that kind of optimism. However, I will point out that socialized medicine could make your investment irrelevant.
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Old news? (Score:1)
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It seems that you do not appreciate how long it takes to do real research.
There were notable side affects (Score:3, Insightful)
"All three patients showed a statistically significant increase in visual sensitivity at 30 days after treatment localized to retinal areas that had received the vector."
Well, one notable side-affect of the virus was improved vision.
Re:There were notable side affects (Score:4, Funny)
Better peripheral vision = Side effect!?
Here is some more recent work (Score:5, Informative)
http://www.wired.com/wiredscience/2009/09/colortherapy/ [wired.com]
I have a feeling this will be up for a Nobel Prize. It was seriously groundbreaking work and the entire vision science community is excited about it.
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Nobel Prizes aren't for seriously groundbreaking work any more. They're for people who talk about serious groundbreaking work, but haven't done anything yet.
Rogue-like game for the blind (Score:4, Insightful)
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Have you ever found any MUD clients with built in text-to-speach?
some things might happen too fast to be spoken.Not sure.
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There are also braille readers that have internet access and can "display" web pages. I've never played with one of those, but I did play with a braille reader and thought it was pretty neat stuff.
Tetris for the blind (Score:2)
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Sorry if this comes off as insensitive, but did you know your children would have this condition before you created them?
I've known of other people who had genetic illnesses they knew would be passed to their children, causing them to almost certainly die an early death. These people had themselves sterilized (vasectomy) to avoid this, and when they wanted children, they used a sperm donor instead, so that they wouldn't condemn their children to such a fate.
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My friend, there is no such thing as “incurable”. There is only ”we don’t know how to cure it (yet)”.
“incurable” is something, that arrogant physicians with a god complex use, because they actually believe that when they themselves can’t cure it, nobody ever in the whole of the universe will be able to. Which for plainly obvious reasons is not the case.
From what I know about this method (I already read about it, years ago, in scientific publications), we can b
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I also play another game called Kingdom of Loathing which fits a very similar profile. Their setup uses a lot of text and
Then and now (Score:3, Interesting)
People are still making [ifwiki.org] plenty of text games, even more elaborate than the ones from the 80s (thanks to increased memory capacity, better tools, and evolving expectations). And indeed, they're popular with blind players who use screen readers.
wrong paper (Score:5, Informative)
the actual paper, Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics, can be found here [pnas.org]. It concerns the same gene, incidentally.
Oblig... (Score:4, Funny)
IR vision (Score:2)
sign me up.
Going blind sucks, I should know... (Score:5, Insightful)
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Me too. I was diagnosed 25 years ago, with a predicted 10 years before I would be completely blind. The disintegration has actually been a bit slower.
Lots of things I can't do, but it doesn't hurt, and it really doesn't make life that difficult.
The only problem I have at all is when I walk in to people by accident. One one occasion, I was accused of being on drugs, and on a couple of occasions (spilling a pint in a pub, for example), people have been pretty rude and wanted to start a fight.
Honestly, without
Another ABC News 'Miracle' (Score:3, Insightful)
Related TED talk (Score:2)
At least, superficially related in that it's to do with how the brain interprets visual data, which covers a similar topic to the New Yorker article:
TED Talk: Pawan Sinha on how brains learn to see. [ted.com]
Almost Biblical (Score:2)
I mean, wow, hasn't restoring sight to the blind been one of the attributes of divine powers? I hope this advance which comes from the ingenuity and intelligence of MAN will help shake the faith of those who believe in such fairytales as the flying spaghetti monster et all. Maybe when we all have hoverboards, walking on water won't seem such a big deal as well.
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While I'm not remotely theistic, there's rather a difference between the use of tech to accomplish something and that same thing being (allegedly) accomplished without tech. People who are prone to take the bible and other works as, well, holy writ, are just going to say, "Sure, but Jesus did it without a board."
To give a less charged example, which one of these things is amazing:
Person jumps out of a plane, falls 10,000 feet, lands with minimal to no injury using a parachute
- or -
Person jumps out of a plan
Interesting read (Score:3, Funny)
Yeah, now it's 5:30 in the morning. Thanks a lot.
Agreed (Score:2)
Good news, but... (Score:3, Interesting)
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Well, it's certainly small for a later stage clinical trial prior to deployment of the treatment, but it's about right for an early trial of efficacy.
With gene therapy you don't want to just start pumping people full of it - there have been some less than fortunate situations in the past, so limiting the initial trial is a wise choice.
Now that this demonstrates that there may be some beneficial effect without horrific side effects, they can ramp it up to a larger trial size and go from there in good conscie
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It's just you!
More seriously, it's a fine number of people for a preliminary trial to decide if you're just wasting time or if you might have something worthy of a larger safety or efficacy trial. It also has the advantage that if there is an unforseen problem, at least you minimize the number of affected people. For example, the somewhat infamous TGN1412 [wikipedia.org] trial.
Now that nothing terrible has happened to the few subjects tested and some positive results were seen, they know that a larger trial is worthwhile a
Proved?!?!? (Score:4, Insightful)
Um, it takes a fuck load more than SIX kids to /PROVE/ something. SIX isn't anywhere close to statistical significance, nor does it even remotely demonstrate safety. Proven/proof are VERY big words and shouldn't be thrown around lightly. These preliminary results may be encouraging, but are FAR from proof. Especially, in the medical field.
Re:Proved?!?!? (Score:4, Informative)
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I am a biostatistician.
I have not read the details of this study, but consider the following example, with included R code so you can replicate it. It is a hypothetical study where 6 subjects are randomly determined to be administered treatment, and 6 subjects are randomly given placebo. All 6 in the treatment arm are cured of blindness. None of the 6 in the placebo arm are. The p-value for Fisher's exact test, which is a *conservative* test (i.e., has lower size than the proclaimed alpha level) yields
Highly Specific? (Score:2)
Early-onset, severe retinal dystrophy caused by mutations in the gene encoding retinal pigment epithelium–specific 65-kDa protein (RPE65) is associated with poor vision at birth and complete loss of vision in early adulthood.
Along with their solution:
We administered to three young adult patients subretinal injections of recombinant adeno-associated virus vector 2/2 expressing RPE65 complementary DNA (cDNA) under the control of a human RPE65 promoter.
Makes me think that this seems like a highly specific approach and will only work on people who've had damage done on that protein, not general blindness altogether. There are MANY people who are or become blind for genetic or developmental reasons, and it doesn't seem that this work will help them much, if at all. For instance, the only woman who I had a "serious" multi-year relationship with (so far) has aniridia , which is
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I think the only near universal cure for all kinds of blindness would be direct connection to the brain - and even then, if the optical processing capability of the brain is destroyed/never developed, some people would still not be able to benefit.
So, as you point out, the fact that the mechanics for blindness differ in many ways, so, too, must the treatments used to correct it, which of course means it'll be highly specific.
Want! (Score:2)
To be clear, there are multiple forms of blindness. I happen to be stuck with severe myopia and cone dystrophy - so shit's blurry and the daystar messes me up. The therapy described won't fix the myopia, but holy crap that's the closest thing I've heard of to a fix for the cone-rod mess in my life to this point. Mitigating that might not improve my ability to focus, but it might help reduce the strain on my eyes from things like looking around outside, even on cloudy days. A pair of good wraparound sunglass
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Offer's also open to deaf persons. I can hear people from across a busy room of other people. Also have to turn off my HD/DVD recorder because I can hear it's fans from across my room at night.
They won't take you up on the offer -- It seems that an astonishing percentage of the deaf community prefer to remain deaf. See the recent Dan Schwartz backlash and the cochlear implant controversy.