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Wills Eye Institute
Patients with cat eye syndrome have a congenital defect that can make the pupils resemble a keyhole.
By Stacy Lipson
When Kathleen Neely was a kid, her eyes were a bit different from other people. While the left was blue, the right was green, and it was smaller -- oh, and it looked like it could belong to a cat.
Neely was born with cat eye syndrome, a condition marked in some patients by a congenital defect of the iris called a coloboma, which causes the pupil of that eye to look keyhole-shaped, much like a cat eye.
Statistics from the National Center for Biotechnology Information estimate that cat eye syndrome affects one in every 50,000 to 150,000 live births. It's a chromosomal disorder, meaning it can be passed from mother to child if the mother is a carrier of the disorder.
Dr. Alex Levin, chief of the Wills Eyes Institute at the Pediatric Ophthalmology and Ocular Genetics Service in Philadelphia, says that cat eye syndrome occurs when patients have an extra piece of chromosome 22, creating two extra copies of that particular piece. Having an extra piece of chromosome 22 can cause serious health issues with organs such as the heart and kidney, Levin says. And vision itself might be impaired, if the coloboma affects the optic nerve and retina.
As a child, Neely was teased for her unusual eyes; she remembers her peers called her names like "Cyclops." When she was 30, her right eye was replaced when it started to deteriorate. Today, she has a prosthetic eye.
"I'm in good health," says Neely, now 39 and living in Boulder, Colo. "I consider myself very fortunate."
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I am thrilled to see this. Its a very rare disorder and you hardly ever see anything about it. My son has bilatteral coloboma. However, there is only one thing I would like to comment on. I am on a site with other moms of children with coloboma (very helpful and supporting sight, its on facebook, coloboma moms) anyway, this post makes it look like every child's eyes look like "cat eyes" however, in each case they are truly unique and different. Not everyone with coloboma has the "cat eyes" there is so many different looks of coloboma. Also, it states its a disorder that can be passed from mom if she carries the gene. That also is true, however, its not "certain". It makes that seem as if it is the only cause of Coloboma which it is not.
This article is not very informative, nor very accurate. As someone with unilateral congenital coloboma, it would be nice to not have the article refer to a medical condition as "cat eye syndrome". It only makes it seem like less of a legitimate condition, and more of a circus, or freak-show type attention-grabber.
If you read any scientific medical journal, or do any research on this condition, you'd see that it has not been proven to be passed from mother to child. Most cases occur randomly, to children without any family history of the condition. No one can really explain why it occurs.
It is a hard thing to have as a kid, and an adult; however, usually children are just curious, and want to know the "what" and the "why". It's usually adults who are unable to handle people who are different in some way.
I feel sorry for her when she was younger. Kids can be so cruel.
...and brutally honest! They hold no punches back.
does it effect how much light comes into the eye? can it close like a normal iris? the peeps whats to know!
Coloboma does effect how much light comes into the eyes. People with Coloboma like my son, well, their eyes do not dialate like norma peoples, and their pupils are "bigger" so some of them, not everyone, but some, like my son, are extremly light sensative. In my sons case, he is completly blinded by sunlight and florecent lights. He has to wear sunglasses even on a cloudy day
This is the same for me. Can your son see extremely well at night like myself?
Dr. Alex Levin doesn't know what he's talking about. I've lived with coloboma my whole life and was also one of the fist case studies when I was born in the 60's when it was still rarely heard of. His statement saying it can be passed from mother to child is not proven at all and he has no statistics to base that comment on. Also, his statement in regard to coloboma causing health issues later in life is a total fabrication and has no truth in it.
I do feel for children that are born with it because of the teasing. I know first hand what this is like. That said, they will get over it and learn that it makes them unique just as I have.
I myself have "cat eyes" in both eyes, I do not have any serious illnesses. Heck until I was 18 I did not know what or why I had such eyes. I was told it was from a long child birth process in which I MIGHT have lost oxygen during the process. I think there is need for much more study on this. I also have been teased because of this and heck even at 50 years of age still get stared at and questioned as to why I am like this.
I am a 57 year old female with 6 siblings. I was born with a coloboma in my left eye and no one else in my lineage has had one that we know of. As a child, people thought I was blind in that eye but I do not recall any teasing or unkindness. I wear sun glasses to keep the bright light out and heavily overcast days are more likely to give me a minor headache but otherwise, I have no problems.
Interesting connection to organ problems - heart & kidney. I had my right kidney removed 7 years ago with cancer. It was encapsulated in the kidney so chemo and radiation were not necessary - just kidney removal. But this information is important for all colobom-ites, -- if you have one, pay special attention to your kidney & heart health.
Int
I too was the first generation with this defect.
No doctor or anything I've read about coloboma has ever pointed the finger at chemicals that were starting to be used on food crops in the 50's & 60's. However, its my personal belief that its more than likely the cause because of the lack of testing related to birth defects on the chemicals that were being used. I just find it very odd that hardly anything was known about coloboma when I was born. This is more than likely why I was a case study one of the leading eye centers at that time.
Thank You Derek! The more I read this the more upset I get. My son has Coloboma in both eyes. Bilatteral. He is 6 months and as of right now are unsure of what his future holds. I am extremly sensative when it comes to this, and seeing false information posted is very discouraging. Especially about the mother passing the Gene. I am participating in a study that Dr.Brooks has in Maryland at NIH in June. Seems, he is the only doctor who studies Coloboma CORRECTLY and is searching for a cure or answers. As of now, they have made much progress over the past 4 years, but are still uncertain what causes Gene 22 to malform. But to state is has to do with the mother passing the Gene is so untrue. I think this so called doctor needs to check his facts, and I for one am not thrilled at all with this article! However, Coloboma can be related to CHARGE syndrome which is basically alot of genetic problems. My son has had heart problems, atresia, tracheomalasia as well as few more....but this DOES NOT mean everyone with COLOBOMA has any other medical problems at all. Like I said earlier, each case is truly unique and different.
I actually consider myself very fortunate to have had my coloboma positioned where the largest portion of the keyhole is covered by my eyelids. I've read many cases and has been told by the surgeon I saw since birth that I could have been born blind if was 180 degrees difference. Given that a coloboma pupil doesn't expand or contract based on light levels like normal pupils do, my eyelids act as my shutter.
As another poster stated that they are very sensitive to sunlight, I am as well. I always try to find the darkest glasses I purchase... heck, even florescent lights in my office bother me.
Its odd, but my hobby and passion happens to be one in the dark which is astronomy. The only 'benefit' of my coloboma is that I can see extremely well at night. Therefore, I can typically see more faint objects than what other people can see through telescopes.
Just a funny little story when I was little... I have two older brothers, and they use to LOVE to close all the doors to our bedroom at night and turn off the lights. They would get on their hands and knees and make growling noises like they were monsters. Yes, you may think that its bad for older brothers to do that, but I had the upper hand. I can actually make out levels of darkness even if there is little to no ambient light. That enabled me to see their bodies in the dark and kick them in their guts. They never knew how I could find them in the dark and to this day I have never gave up my secret to them :)
My daughter was born with a bilateral coloboma in her right eye. Her's is shaped more like a keyhole or an exclamation mark. When she was born, I was told that the development of the coloboma happened sometime during the 5th week of gestion and that the iris just didn't form completely. I haven't heard anything about the mother passing it down other than in this article. She is the first one in our family to a coloboma. So far it hasn't seemed to effect her vision nor does light seem to bother her. We have been extremely fortunate in that she hasn't presented any of the charge symptoms. Thank you for letting me know about the group on FB. I didn't know it was there.
You are very welcome. I love it. The group has provided me an anormous amount of support through a difficult time. Not knowing your childs future is hard and heartbreaking at times (he also has other medical problems).
Are there any regular online groups that aren't associated with social networking? I hate those thing.
I find it hard to believe that a website like MSN would publish an article so full of errors. If you want to find the real facts about coloboma you should check the real expert Dr. Brooks at the National Institute of Health. Cat Eye Syndrome is a specific type of coloboma but not all people with iris coloboma have Cat Eye syndrome which is genetic. Telling only half a story is not good medical information. I have a daughter with coloboma in one eye which is called unilateral coloboma. Her eye appears like the eye show in your picture but her coloboma affects not only her iris but her choroid and retina also. She has a blind spot. She is a 22 year old Graduate student. Her eye color is brown so it was not as obvious that she had coloboma. Please MSN when you report on an issue like this do fact checking so that you are really educating people.
I feel for those who are dealing with this...however I do not believe this is news. Like all main stream snooze, there is an alterior agenda...why are they telling me this? Is this a big problem? No. So why, when we are at war on multiple fronts...do we get fed this? So when we see someone with reptillian eyes, we can say Hey! I know that is "cat eye syndrome"...cuz no one is going to remember Coloboma.
More than likely, the guy is attempting to get a name for himself where its not deserved.
Derek I couldnt agree more! I think thats exactly what it is!
My niece to has this disorder and lives a very normal happy life...she is also the first in our family to have the disorder so I find some of this article untrue and not at all helpful...she also has just recently become a mother and the baby has no signs of the disorder either. Hope all stays well for momma and baby and someday to find a better informed article on this matter.
Also to add to this my niece's eyes do not look like cat eyes...thank you!
My coloboma is in both eyes and are best described as pie shaped The widest portion runs along the edge of iris, then narrowing as it comes to the pupil. My eyes are blue, so its noticeable if a person is somewhat close to me. I'm also far sighted with astigmatism which is the more rare combination. I've had to wear glasses or contacts my whole life. I've had lasik which improved my vision dramatically, but I still wear corrective lenses. I'm waiting for the blasted FDA to approve another lasik procedure that should fix me up for good, or until I get to be really old. Either way, I would have the surgery again.
This is not the first time I've done this, but I dared to look up coloboma on Google Images. Its not a pretty site. I really feel sorry for all the children that have more than just that one defect. I have other defects, but none that are as visible as those children. I've had problems breathing through my nose due to extra bone growths in the sinus cavities as well as my hip joints not positioned properly. I do know how lucky I am.
Wow. Just wow. You'd think someone might do some fact checking before posting an article. Guess not! I have Coloboma in my left eye and have never gotten the same opinion from any of the doctors I have seen. I was made to wear an eye patch at school because the teacher complained that it made her and the other students uncomfortable... We were told it was a birth defect, hereditary, it was because I was born prematurely, because I am of mixed race.... My mom was told when I was an infant that I should just have the eye removed because it wasn't ever going to work. My mother was even investigated for child abuse as one doctor had never heard of the condition and was convinced I had sustained an injury to the eye and was never treated for it. So while this kind of misinformation isn't anything knew (to me at least), its still frustrating to see it continuously put out there.
I found a group of Coloboma moms (I'm not a mother myself, but its nice to have a group of people who know what I went through/have to deal with) and have learned a lot more than what any doctor has ever been able to tell me. I am now 32, my eye is still "working" and the only problems I have with it is an extreme sensitivity to light in the left eye and my vision isn't 20/20.
Well, you will be happy to know its definitely not hereditary. They've known that for a very long time. It's unfortunate that you've received so much misinformation through the years even to the point of doctors wanting to remove your eye.
I know how you feel about people saying you make them 'uncomfortable'. I was once told I looked like a demon and they couldn't bare to look at me. I always thought I could be in some movie or tv show and play the part of an alien. I definitely have the eyes for it. :)
This article is about my sister. She has a 4-year old son who also has this condition but his is bilateral. He also has many very serious health related issues associated with this chromosomal disorder. What is your information based on that you state that it is not hereditary? It was passed from my sister to her son.
I'm basing my information from the case study I was a part of when I was born. IF it were hereditary, we would've seen this defect span multi-generations (even if there were gaps). I believe there are other things about this defect that are yet to be discovered. Your sisters case would more than likely be considered an anomaly.
Those of you that are annoyed as I am as to the misinformation as this article, please send an email to bodyodd@msnbc.com and tell them your feelings.
Both my younger and older sister have this condition! It looks like an upside down tear drop..kind of weird.
wow... two siblings with it! That's extremely rare!
Just my older sister had an eye problem when she was about 12 yrs old and had eye surgury, they fixed the problem then. They luckily never were teased or bothered, then too they both have brown eyes so they couldn't really notice them.
I'm curious to know exactly what type of surgery they performed to 'fix' his coloboma? I would also be curious as to how bad (or large) his defect was?
Thanks
Im curious about the surgery also. From all the doctors and Opthromologist and Dr.Brooks, I am certain there is no surgery that can "fix" coloboma. Its not curable nor can be fixed. In my sons case they can remove catoracts but his coloboma will remain for the rest of his life.
I have emailed Dr. Brooks and told him about myself and sent a photo of one of my eyes to show the type of coloboma I have No response as of yet.
Just another of my two cents....my son's eyes are beautiful and unique! He's the only one in our family, the only one we've ever seen with such eyes an I am so proud to say, he's my specal little man. Yes, we have to deal with alot including an extreme light sensativity, but he will be like no other. I am upset over this article because it is very misleading and correct information is not being given. I like many moms are very sensative to our childrens needs and to see this, simply outrages us. Like I stated before. I am part of a group on Facebook "Coloboma Moms" I am the assistant administrator on there. Its very informative and supporting. A beautiful group of people who understand what we are going through. My son gets the stares and the questions. A lady once called him "creepy" needless to say, she got a coke poured all over her. He's not creepy, hes beautiful. Please, I encourage you all to look up Dr.Brooks at NIH who has correct information.
Hi Betty - I also wrote below re: Dr. Brooks study. We are a part of it, and I strongly encourage those with coloboma to contact him to join the study.
Hello there, would it be possible for you to let me have the contact information for dr. brooks?There is lots of information i would like to have, as my son, who was born on nov16/2010 has what we think is coloboma, bilatteral (both eyes?) he sees a specialist on the 25th, of this month. He also has nystagmus. If at all possible we will likely want to be a part of this study, as well. Thank you.
Betty... what study is Dr. Brooks actually performing? I'm very curious and would like to know more details.
Thanks
Derek, he studies Coloboma. I am going in June. They are trying to figure out exactly why the Gene is malformed, or present. What causes it, and if it can be cured. As you probably know, some of our babies have very poor eye site or are blind due to Coloboma. He researches it, and is trying to find new ways to fix it or improve it. He is very informative and his staff has really helped me, even now. And I havent even been there yet. We are scheduled to go in June
Wouldn't it help to get those 'fake colored' contact lenses? Like when you want to have blue eyes but yours are actually brown? Would that cut down on the teasing?
To the guy who can see great at night - COOL!!!!!!!
I often thought of about that as well, but they would have to be solid colored and not transparent at all. Even if you wore cosmetic lenses, I think they would draw even more attention to you than without them.
You ever noticed how freek'ish Marilyn Manson looks? No thank you :)
I can understand someone saying about the "contacts" however, the thing is,have you ever seen contacts shaped the way our child's eyes are shaped? You would still see the Coloboma's. But in my sons case, I would never try to cover his beautiful unique eyes. They are beautiful! With everyone who has Coloboma or the moms of children with Coloboma, we are proud of their eyes. The likely hood of anyone being like them in their lifetime is next to none. I have NEVER met or seen anyone with his eyes before. I speak with them on Coloboma Moms, but to actually see someone in person other than my son has never happened. He'll be remembered wherever he goes ;)
What a poorly researched and written article. You should really check your facts with multiple sources before publishing an article like this online - shame on you, MSNBC. First of all, coloboma does not always occur when a person has an "extra piece of chromosome 22" as you state in your article. There are many different causes of coloboma, and doctors studying it believe it can have both genetic and non-genetic causes. Additionally, I have seen nothing suggesting it is passed down only from mother to child, as you also suggest.
Additionally, the implication that individuals with coloboma having an extra piece of chromosome 22 and that this "can cause serious health issues with organs such as the heart and kidney" - this can happen when individuals with coloboma also have larger health problems like CHARGE (and my understanding is that this is relatively rare among those with coloboma). Many individuals with coloboma, like my daughter, have only the coloboma and everything else is fine - she leads a normal life.
Dr. Brian Brooks at NIH is the leading expert on coloboma and is running a study on the causes of it. There is so much that is unknown about this disorder. I recommend you contact him for more accurate information for your article - brooksb@nei.nih.gov I also think you should consider pulling and revising this article, because of these inaccuracies. This does not live up to the MSNBC standard. Clearly, from reading the other comments here, I am not the only person who feels this way.
Thank you,
AMN
It's fine that they showed an up-close eye....but why didn't they show a picture of a person with this condition so you can really get the idea of what it looks like.
This artical pisses me off! My son's eyes are beautiful! He gets told that everywhere we go! You did horrible on the research for this subject! This is such a sensitive subject that doesnt need false info going around about it. You are more then welcomed to come over to coloboma moms on facebook and talk to many mothers who are going threw this with their child. As for Dr. Alex Levin HOW DARE YOU blame it on the mothers! I did not give my son coloboma. He is the first out of the family to have it. My husband and I were both tested so get your damn facts straight before you say something like that. My sons health problems have NOTHING to do with his coloboma they are not related in anyway. I have no idea what his health holds in the future but I am not gonna be worried that since he has coloboma he is gonna have all these health problems. Also when you talk about the people with coloboma DO NOT talk like they have these horrible looking eyes. They have unique beautiful eyes!
First off, KRIS, it's sad to think of a child being treated that way in school (wearing an eye patch for the comfort of others?!?). It is good of you to join the Facebook group just for the support of others.
Second, DEREK, being able to see better in the dark makes you a superhero. Like Stan Lee said, "With great power comes great responsibility". You should have used your ability to help your siblings, not kick them in the ribs. However, it's still funny as can be...
For those not aware, CHARGE syndrome is an acronym for Coloboma, Heart defect, Atresia of choana, Retarded growth and development, Genital hypoplasia, Ear deformity. Anyone who has a coloboma should be curious and watchful for the above symptoms.
Lastly, coloboma is caused by the abnormal closing of the ocular tissues in utero, which accounts for why they are always near the bottom of the iris. This is a structural deformity that may extend through to the retina or to the choroid (vascular layer). In this case, there will be vision loss. This is an extreme case. Medical professionals, like myself, are still unsure what causes this. Therefore, please don't be so quick to discount the genetic influence of said malformation. It seems like many moms are offended by the possibility of this being a birth defect. Even if research proves this true, there was nothing you did intentionally to cause a coloboma, nor anything you could have done to prevent it. Genes are genes, no one is putting the blame on you.
First of all, it is offensive that you would print about this disorder in a paper that writes about medical issues that make you go, "huh, ewww, or ouch." Secondly, this article is full of medical misinformation about the relation of cat eye syndrome to coloboma. Cat eye syndrome is one TYPE of coloboma that is genetic and has other serious health issues associated with it. Most people with "keyhole pupils" do not have cat eye syndrome, but just regular coloboma. Coloboma (non-CES) has not been linked to any chromosome, and most cases are the first in any given family (which Dr. Brooks would be the first to tell you if you would like some real facts on coloboma). Most people with coloboma do not have to have eye transplants or the serious health issues that come with CES. Overall, this article was offensive and inaccurate!
I echo the previous posts that are critical of the article's content and accuracy. It is disappointing to have the condition sensationalized as "weird" or "odd".
Our 2 year old has coloboma in both eyes with retinal and optical nerve damage. While we expect her to live a happy and productive life, we do not know to this day how well she can really see. There also is no real cure currently for the retinal / optic nerve defect. My wife and I both have undergone genetic testing with no conclusive link to her condition.
It seems with a little more effort you could have had a more informative article vs. an inaccurate fluff piece to get curious viewers for the "weird" perspective. One positive is the posts that had more accurate and helpful information than the article.
Sean... they were older brothers as I said. They deserved it for trying to scare me... constantly. I was taking justice in my hands as super heros do :)
You are correct about your last comment about what causes it biologically. However, that is not the answer we (those of us with it) are looking for and have been looking for our whole life. The reason I discount genetic influence (like being passed from mother to child) is because its been pretty much proven to a certain extent. As for moms not blaming themselves, I totally agree.
I have a friend who has one brown eye and one blue eye. It's very strange to look at. he is cool though.