Achromat

“You know, we sometimes forget you’re blind,” my grandmother matter-of-factly stated in response to a situation that inevitably happens between me and every sighted person I spend any amount of time with. The exact event varies, but always involves me not seeing something that is right in front of me. In this particular instance she had left me a cup of coffee on the counter, which I only discovered after nearly knocking it into the sink when I set a second cup by it to reach for the sugar bowl. I must have looked a bit dumbfounded because she continued: “You get around so well most of the time we just don’t think about it.”

I remember it gave us both a good laugh, but for a good part of my life that rather mundane exchange with my grandmother would have bothered me because it seemed like I constantly had to defend my own inability to see.1 This was especially difficult when I was younger because I’ve always seen the way that I do and so I had nothing to compare it to. I knew I was colorblind, but it held as much meaning to me as being legally blind. I once heard my father tell someone that my vision was like watching “an old black-and-white television.” It was the first time that people seemed appeased by a description of my blindness and so for the longest time it was the explanation I used. Until I actually watched an old black-and-white television and realized this description was wholly inaccurate. I could tell the difference between what I was seeing and how things appeared on the television screen where the world was portrayed as monotone and I found it hard to distinguish things like clothing and furniture from the background. Whereas in reality things were vibrant and full of contrast. Sometime after I had a discussion with my father about this and, at least for me, it was the moment of realization that there was possibly no way sighted people would truly understand how I saw things.

I was born with the retinal condition achromatopsia. You probably have never heard of it outside of the few mentions on this blog because it is incredibly rare, affecting roughly 1 in 33,000 people.2 Nowadays there are genetic tests that can aid in diagnosing achromatopsia, but when I was younger the tests were far more complicated. There were signs, of course. As an infant the main one was that I had nystagmus, which is an involuntary movement of the eye and is a common sign of vision loss in children. However, it can occur all on its own and it can even improve with age. My parents were predictably freaked out about it, but their fears were basically brushed aside by doctors. I can’t really fault them on this because these were the same doctors that told my parents my allergy to cow’s milk was a heat rash and so mostly I’m glad my parents didn’t succeed in freezing me to death before that was cleared up.3

Anyway, the years passed and as my father put rather succinctly, “We just thought you were clumsy.” He explained that I could “obviously see stuff” but then I seemed to deliberately walk into the coffee table on almost a daily basis. In his defense, he did cart me around to pretty much every doctor on the planet, though, to this day I’m still not sure if it was my increasingly quirky behavior that spurred him on or his lack of faith in military doctors after the heat rash debacle.

The first six 'ishihara plates' which are circles formed by alternating colored dots It was through this that I became familiar with colorblindness tests like the example of the Ishihara Color Test to the left. I can only assume that lack of understanding about achromatopsia contributed to how often these color perception tests were administered. Otherwise, someone probably would have bothered to explain to me that as I possess absolutely no ability to perceive color it was literally impossible for me to see anything beyond that first plate’s number 12.4 Instead I perused these circles with a same devotion many give to Magic Eye images.5 I forget exactly how I came to understand that I was completely colorblind, but I can assure you that it had nothing to do with these tests.

The other main feature of achromatopsia is that it causes severe light sensitivity. The type of achromatopsia I have is classified as “complete rod monochromacy” and means that the only functioning part of my retina are the rods. Whereas cones function best in bright light, rods saturate at higher light levels. It’s basically the concept of being dazzled by high-beams, except that in my case I don’t have cones to pick up on the visual slack and so instead I’m completely blinded by light. You know how most people loathe going to the dentist? Well that’s basically how I feel about the eye doctor. Part of this is because having my eyes dilated is basically like taking the entire sun and shoving it straight into my eyeball and it seems to take about twice the normal amount of time for the solution’s effects to wear off. But mostly it’s because I have very distinct memories of being subjected to electroretinogram tests. ERGs test the eye’s reaction to natural stimuli, which sounds innocuous when you put it like that. In practice it was more traumatizing and involved sticking me in a dark box and having lights shined straight into my eye for an hour. Really puts that teeth cleaning into perspective now, doesn’t it?

My childhood nightmares aside6 there is one last defining characteristic of achromatopsia: it is incredibly stable. In fact it is so stable that aside from a change to bifocals at about ten, I’m wearing nearly the exact same prescription in my eyeglasses right this moment as I did in the first pair I was given at four. My eye doctor finds this one of the most fascinating things about achromatopsia. Second only to the fact that the retina of an achromat does not appear any different than that of a fully-functioning one. He and I have very different feelings on what is fascinating, but then I wasn’t the one who went to college so I could look in people’s eyes all day.

What’s more, as I’ve detailed before, if I’m in an optimal light situation I can read regular print without the aid of a magnifier. Much like the coffee table, this has caused no small amount of confusion for people throughout my life. It’s difficult to understand unless you fully grasp the anatomy of the eye. In the simplest terms, it’s basically cones that handle distance vision and give clarity and crispness to your sight. Without them, there isn’t so much an absence of these but a substantial drop in both. Meaning that things I can see are in sharp detail, but they need to be relatively — sometimes extremely — close. A person with 20/20 vision looking out at the horizon on a clear day can see for quite a ways, but at some point things start to grow indistinct and they can’t quite make them out. In my case, that line where things grow indistinct is very dependent on the amount of light, but sometimes it’s hardly six inches away. Which is why trying to explain what I can see in terms of visual acuity is like describing a cell phone to Alexander Graham Bell. It sort of gets the point across, but it’s not really the same thing at all.

Recent events have sparked a lot of chatter about the different viewpoints between people who are born blind and those who lose their sight later in life. It’s a topic I’ve given a lot of thought to over the years and actually wrote a paper on for a Psychology class in college. In a lot of ways the two are almost different disabilities because of the different psychological effects they present.7 Where this comes into the sharpest relief for me is in understanding color perception. Being able to perceive color is an ability, but actually identifying colors is something that is taught to you. Our understanding of this has grown lately due to scientific studies that prove animals such as dogs, cats and birds can perceive color and can be taught to appreciate them. Learning colors is one of the very first things we teach our children and because of that knowledge a person with color perception would consider my vision an absence of color, but it’s really not. Unfortunately, there’s no way to really bridge this gap because you can’t really unlearn colors and my understanding of vision would change drastically were I suddenly able to perceive them. When I think about it I can understand how frustrated people in my life must have been in trying to understand my vision. Me? I find the whole thing thoroughly intriguing.

  1. Though it’s more accurate to say that my elementary through high school years were spent feeling disgusted and ashamed of being blind. But that’s a whole other post.
  2. It should be noted that statistics on achromatopsia have not been updated since the 1960s, but using the United States July 2011 census results that works out to less than 9,500 people in a country of an estimated 21.5 million people with “trouble seeing.” I’ve been seeing the same eye doctor, a low vision specialist, since I was four and he’s only ever had one other achromatopsia patient. And aside from people I’ve met via the Internet and through a support group (that was more accurately a list of pen pals), I’ve met one other achromat in my life and it was at a school for the blind.
  3. I’m really not kidding about the freezing me to death thing because they had me naked in my crib with fans blowing on me and the thermostat set to 55°. I ended up being properly diagnosed on the fly by a pediatrician on a bus who took one glance at me in my mother’s arms and bluntly told my parents: “That baby’s allergic to milk.”
  4. The first plate is a control plate that everyone should see regardless of the level/type of color blindness. I can kind of see the 15 in the sixth plate, but probably because of monitor calibration and the fact that I know it’s supposed to be a 15. The other plates are 8, 29, 5, and 3. If you have red-green color blindness you’ll see different numbers for those five plates.
  5. No, I can’t see those either.
  6. ERGs and colorblindness tests featured heavily in a recurring nightmare I had as a child. Honestly, I try not to think about it.
  7. It’s worth noting that there is something of a controversy over this. Essentially it boils down to the two being different because one is a “worse” type of blindness. Yeah, I don’t understand it either.

Comments

  1. Have you ever read An Anthropologist on Mars by Oliver Sacks? In it, he writes of a person’s blindness being cured thanks to the wonders of modern medicine. The patient suddenly has a lot of sensations he can’t interpret, and he therefore sees the world a lot differently.

    There’s also a story of a painter who develops cerebral achromatopsia. I read it in college for a psychology class, and the different anecdotes fascinated me.

    • I’m familiar with cerebral achromatopsia. It’s basically what I was nattering on about in the last paragraph because it’s an acquired form of total colorblindness and thus vastly different than how I see. I mean, it’s accurate to say I see in shades of gray. But personally I find that a poor description since I don’t really know what gray is any more than I understand what the color yellow is. Colors quite literally baffle me!

      I haven’t read the book, no. Dr. Sacks also wrote The Island of the Colorblind which I also haven’t read. It’s about achromatopsia, specifically his visit to the island Pingelap where there is a higher occurrence of achromatopsia due to inbreeding. It’s something like 6% of the population.

  2. I teach about color and know about achromatopsia but your first hand description enlightened me even more to what it is like to live with this condition. Thank you.

  3. This is so interesting :) going to find more info about this!!
    Do you mind checking out my website, its extremely new and your feedback would mean the world to me :)
    Thanks!!

  4. This is more than a thoughtful and intelligent post. It reveals you to be person with an enviable depth of character which you are effortlessly able to exhibit in your writing. I’m so glad that I came across your blog.

  5. Thank you for posting this; I learned a lot here that I may otherwise have never known.

    • Thanks for reading! I’m glad you found it informative. I remember the very first time I did an Internet search on achromatopsia and was sad to find there was nothing out there on it. There’s been a lot of advancement, but since it’s so rare there still isn’t really much to be found.

  6. I could not see any numbers on the right side plates!

  7. I read your post earlier in the week, but didn’t take the time to comment then. Shame on me!

    Your post is well-written, detailed, and thought-provoking. I was not aware of this condition before I read your post.

    Thanks for the opportunity to learn something new this week!

  8. Very interesting, Thanks for sharing!

  9. Great post–but I especially want to compliment you on the title. I love to combine words :)

  10. Being a biologist, I know about rods and cones, but I had never heard of this trait. In fact, it turns out I knew less about rods and cones than I thought I did. I had known that rods worked at lower light levels than cones. People with the normal array of cones see colors drop out as the light level drops very low until we are seeing in black and white (gray tones). This is our “night vision.” What I didn’t realize is that the rods are “blinded” at high light levels as you describe, so that they simply don’t function in bright light. I also would not have expected there to be a distance-related acuity problem related to light level. That’s a surprise since night vision doesn’t seem to act that way. (I can see a long way on a moonlit night if there’s enough contrast.)

    The part about black and white movies is interesting. I understand there was a lot of effort put into making sure that the images in those movies had enough contrast. There is often a beauty to them, a crispness, that is lacking in color movies. The whole approach to composing scenes is different if you don’t have color-contrast to rely than if you do. I would think you would be able to see black and white movies better than color movies. Do you find that is so?

    Thank you so much for sharing this description of your unique (well, unusual) experiences. We take so much for granted in this world.

    • Hi Carol! I’m so glad you found the post informative. Let’s see if I can clarify some of the things you’ve pointed out.

      The saturation occurs because of rhodopsin, the pigment of rods. It’s the chemical that allows for night-vision and as it absorbs light it changes in shape. However, it’s incredibly sensitive to light and basically when there is too much the chemical bleaches out. Obviously, it regenerates or we’d all go blind simply from turning on the bathroom light in the middle of the night!

      The reason you aren’t noticing any specific diminishing in visual acuity at night is because you have a properly functioning eye in which both cones and rods are working in harmony. Yes they handle different light situations, but they don’t really turn off completely. (Well, except for that saturation thing.) Technically there is a decrease in visual acuity simply because the fovea is blind in dim light. This is where the sharpest, clearest vision is centered because it not only contains the highest concentration of cones, it is entirely made up of cones. The opposite is also true, so having no cones at all and no vision focused from the fovea is basically why achromats have a lowered visual acuity.

      I know a lot of visually impaired people that find black-and-white to be much easier for them to see over color because of the heightened contrast it provides. Something about stripping the natural colors of the world out, though, presents to me as watching things through a hazy film. Rather than have the vibrant contrasts of the real world, everything sort of blends into a big blob for me. I’m not sure of the specifics of why that is, but I think it probably goes back to that whole learned colors thing I talked about in the post.

  11. Great post, and very informative. I am a follower now. Happy blogging. cheers Judy :)
    judysp.wordpress.com

  12. Thanks for sharing this. Great post :D

  13. thank you

  14. Thoughtful post. Love your share on something that people like me, don’t even know of. Something that for us to understand and learn about. Love it!

  15. Hi there, thank you so much for this post. It is so thoughtful and well written. My 3 year old daughter has Achromatopsia so I am always on the lookout for blogs like yours. It’s taken me a while to find one as good as this so here I am!

  16. You have “red,” “blue,” and “green” cones, which are sensitive to those colors and combinations of them. You need all three types to see colors properly.

  17. Hi Cyndy! I had not heard of achromatopsia before reading your blog, so thank you for enlightening the rest of the world and me. You did a wonderful job of putting a rather detailed condition into more lamens terms and explaining exactly what it entails and how it affects you. You may not be able to see colors, but you write very colorfully! Congratulations on being Freshly Pressed!

  18. Wow, you’re right, it is fascinating. Wouldn’t it be wonderful, and strange, if they suddenly found a way to give you total color spectrum vision?

  19. This is a really interesting piece! I had no idea that this condition existed, and you did a great job of explaining it. Not being able to deal with bright light must be tough – I just had an eye problem that made light excruciating… especially when the optician shone things directly in my eyes! I can imagine how painful your childhood optician visits must have been.

    Thanks for a great read!

    • Hi, Jessica, I’m so glad you enjoyed the post!

      I really empathize with anyone having to deal with light sensitivity because it can be a challenge at times. Generally, the most optimal light situation for people is far too bright for me to be comfortable with. A lot of times people unfamiliar with this will “helpfully” turn lights on for me and essentially render me, well, blind. When I was younger this used to happen all the time in school and I have a rather amusing memory of my father storming into one of my elementary classrooms and ripping into the teacher about it.

  20. this is very…interesting. i feel very fascinated by all this, but i wonder how sensitive the issue is for you, in terms of answering questions? i think i need to do a bit more research before i come back with questions but thank you for sparking my interesting in the subject. you seem to be a very..courageous person. i understand your wit and lightheartedness and the strength it must take to llook at your situation in such a way. congrats on being freshly pressed! x

  21. As a fellow achromat I relate to pretty much everything you’ve written. I have friends that I have known since elementary school that forget I have a vision impairment most of the time and family members too. I’ve taken my fair share of colorblindness tests as well and up until recently I despised eye doctor visits.

    • I’ve gone through stages when it comes to other people dealing with my visual impairment. When I was in elementary school through high school I just wanted it to be ignored because, well, kids are cruel and it just seemed to be a means for ridicule. After I started working with guide dogs, it seemed more that I was constantly justifying that I did actually need to use my dog. I went through it as a child and I still encounter it, but I find that I don’t really stress about it so much because I’ve come to the understanding that people don’t really understand what “blindness” is. They either think you’re totally and completely blind or they expect you to see far better than you really can and then get aggravated when you can’t. My mother actually gets very uptight when I don’t explain to people what I can see and they assume I’m a total, but I find it’s less complicated and unless it’s really necessary I don’t see the point in taking the time to specify what I can or can’t see. (I used to, though, and I found that just exacerbated the whole “needing to justify my vision” issue.)

      I would say I approach eye doctor visits like my dog deals with nail trimming: I don’t enjoy them, but I’ll tolerate them because I have to.

  22. I’ve heard of achromatopsia before because I have nystagmus and have heard of it on various nystagmus forums. But your explanation is so beautifully clear, and, of course, first-hand, that yours is the one I’ll remember the most over and above anything from a textbook or a medical account. Nice work.

    I found your blog through a guide dogs news feed, so it seems I was bound to find your post eventually one way or another.

    I’ve also got macular degeneration now, another cranky retina condition, and some of the symptoms sound similar to yours, but less severe. Those colour blindness tests just look like cookies to me – I have colour vision, but it’s a bit scrambled. And the light sensitivity is familiar too, but mine improves often if I block out blue light with red or brown sunglasses. So colour can complicate things, it seems, even if I value being able to see it to some extent. I’m another blind photographer, and the funny thing is that I can see things better on my monitor once I’ve taken the photographs than I could when I was taking them. I’m very weak on reds, but they appear much better defined when they are back-lit.

    Thanks a lot for such an interesting blog, and I’ve now got your RSS feed, so will always be able to catch up with you.

    • Hi! So glad you found me! And even more pleased that you got some value out of my post. I’ve never read any of the more technical descriptions of achromatopsia actually. When I was more actively seeking information about it, there wasn’t really much out there and now I guess I figure there isn’t much about the condition that would be news to me. One of these days, though, I’ll probably get my hands on Dr. Sacks’ book and read it. And yes, while there’s definitely more information available now, there does seem to be very few first-hand accounts. I’ve sort of fallen out of touch with the online groups and stuff, so I can’t say if it’s just they’re well hidden or there aren’t really that many achromat bloggers. Probably both.

      I’m a bit familiar with macular degeneration as a longtime friend of mine was born with it. I think in comparison she probably has higher residual vision than I do, but like me hers is dependent on light.

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