We finally found a specialist in treating Sticklers (he's 4 hrs away.) We are planning another surgery in 2 weeks to see what can be done for the eye on the right and to have laser (maybe other work) surgery on her left retina (for latticed retina there.) She has total vision loss in the left at this point. I am told the risk for blindness is high with Sticklers. What do we do education wise? Should we be preparing her for the worst case scenario?

(No one in our family has ever heard of Sticklers. We had no idea.)

Coming to this subreddit because I was JUST diagnosed with stickler syndrome - despite having a pierre robin diagnosis already because of (repaired) cleft pallet and myopia. I am 37F and have been told I would have retinal hole or detachment my whole life but it hasn't happened yet. That said, I just had a BUNCH of floaters come up at once -- like a cracked windshield on my vision. Went to the opthalmologist who was like yeah no holes, but weird eye jelly, retinal thinning, a TINY cataract and maybe something ABOUT to happen. I'll be back for another check in 2 weeks. But I've gotta ask. Can those with Stickler in their 40s, 50s, 60s, 70s read? Drive? Have docs been able to catch everything as it happens and deal with it so you can keep doing what you're already doing?

Hi there! My daughter has SS, 8 y/o and she has joint pain, cleft palate (repaired) hearing loss, knock knees, a cataract, hydronephrosis, etc, etc… I mentioned to her teacher that she is a risk for retinal detachment, and joint pain from over exerting herself (she goes hard!) in gym, and that she should bow out if it’s say, dodgeball day. The nurse just called a requested a full specification of what she should and shouldn’t do, and her eye issues/emergency plan. What kind of restrictions if any, do you place on yourself or your child, for school? Her retinal specialist told us to ‘let her be a kid’ and didn’t specify any restrictions. However from what I’ve read, I’m hesitant with that advice. She did have laser surgery in her retinas at 2. TIA for your advice!

Hi all!! :3

I'm a teenager with Stickler Syndrome which I inherited from my mother. My main synptom at least now is that I'm hard of hearing and wear hearing aids because of it.

I've noticed that even when I have been "doing everything right" (flossing, avoiding sugary foods) I still have a bunch of cavities that I need to get filled. My mother says this is probably because of our Sticker's. Is that possible?

(For further context we don't know what typw we have)

Wondering if I have any Stickler compatriots that live an active lifestyle and what works/doesn't work for them in terms of pretty much everything, e.g., training frequencies/styles, activity choices, gear choices, footwear, recovery habits, etc.

I was diagnosed at birth with the Pierre Robin flavor of Stickler and have experienced the universe of bat-level blindness, retinal detachment, cataract, premature joint ouchies, myriad spine issues (albeit mild, thank jeebus), and more I can't think of right now.

In spite of this, I'm lucky enough to be able to hike, backpack, ski, jog, and generally do all the things. That said, once I enter regular, dedicated training (typically HIIT and weight training), I run into issues.

I eventually get tendinitis, which I sometimes treat adequately, but sometimes not. Then it evolves to tendinitis and tenosynovitis, or some atrocious melange.

Anyone somehow NOT wound up stalled here?

Hi everyone! I created a discord server for all individuals with stickler syndrome. https://discord.gg/BHVmyfnf

Let me know if you need another link. :)

Does anyone have any knowledge about Morcher ocular implants or know someone with one? Seems to be a rare implant but a dear friend with sticklers syndrome had one placed 20+ years ago and is in need of revision surgery. Seeking any information about this type of implant and looking for a referral to a familiar doctor. Worth a shot!

Hi all- 40F with history of retinal detachments / tears in early teens. Left eye never successfully repaired, right eye repaired, lasered, buckled.

Recent cataract surgery in right eye and noticing a strange, sunburst type aura in central vision against white surfaces / In changing light / when i blink. Dilated exam by cataract surgeon and retina doc show nothing unexpected.

Have quite a few flashers and floaters at baseline but this is different.

Anyone experienced anything similar?

Especially worried bc I also have both genes predictive of macular degeneration :-(

Also - have any of you discussed with your retina docs long term prognosis for vision? Even with appropriate repairs, can we expect our vision to significantly deteriorate with age?

This place doesn’t look so active but my son and my husband were just diagnosed several months ago with type 2. I am concerned that my son has a submucosal cleft palate. Does anyone else have this?

My mom has been diagnosed with an undocumented gene of Sticklers disease. I think it’s closest to col11a1, but it is called col11t1. She is asking me and my family to be tested so that if there are 5 people with this gene, they can document it and then begin testing on this specific mutation.

Has anyone ever heard of col11t1 and do I need to be tested? I am perfectly healthy (29 y/o) and am honestly afraid of being tested and don’t want to be if I don’t have to, since I have no symptoms.

I have no family history of this. Was born with a mutation on the COL2A1. Known since I was very young celf palette and all that jazz. I was just wondering if anyone else was just a random mutation with no family history of it. Figured this was the place to ask.

Basically what the title says. Two years ago I had my entire exome tested (covered in my country) to try to figure out what was wrong with me; a mutation came back on the same gene as Sticklers type 3. The specific mutation hadn’t been listed before in literature, though, and despite type 3 apparently having no optical issues I do have optical issues? Cataracts, high myopia, and some sort of deposits on my optical nerve which may turn into glaucoma, iirc. Anyways - I was wondering if anyone else had ever been diagnosed with type 3 or had a mutation on that gene who also had eye issues?

COL11A2 • rs145343609, CADD 22.9, freq. .0009452, uncertain significance (but also likely benign)

• rs1179310340, CADD .781, freq. 0 – ALFA, .000008 – Top Med, T, G, TG

Wondering if my hEDS is really Sticklers - as my dad has a cleft palate.

I want to start Muay Thai which is a martial art which similar to boxing means heavy blows to the head. I got laser eye surgery when I was 2 in 2009 to ( I think) securely connect my retinas into place I was wondering if after that surgery I’m more susceptible to retina detachment and therefore shouldn’t fight

For those who have gotten a vitrectomy in one (or both) of your eyes, what's the longest consecutive period of time you've had silicon oil? How has your vision changed over time due to it? My good eye has been filled with the same oil for nearly two years now, and since then the distortion has become a lot more noticeable. I'm not sure if my developing cataract is a factor in this or if it's mainly because of the oil. We are waiting as long as we can before removing the oil because it's pretty much the only eye I see with and I've experienced redetachment within a month of the last time the oil in my other eye was removed.

Does anyone not know what type of Stickler they have? I am a 38f and was diagnosed at 5 years old. My Dad and Grandmother were also diagnosed at the same time. I can remember sitting in a circle and them taking pictures of our hands and feet and being amazed by what they were seeing. I had that geneticist follow me until I was about 12 and he passed away. I have asked my mother if she knew anything about types and she has no clue. I am guessing there weren't different types 30 years ago. I'd like to find out that type I have but every Dr. I have told about it has never heard of stickler. When I was having my 1st child my OB did tons of research to find out as much as she could so I could have a safe delivery, but she's the only Dr. that has ever tried. BTW neither of my children have stickler. I was born with a club foot, and a lazy eye, but no cleft palate. I do wear glasses but have never had any retina issues. I have severe hypermobility issues, and hearing loss.

My husband has Stickler syndrome 1 and had cleft pallate, retina detachment, hyper mobility and joint pains sometimes. So we are going with IVF with PGTM and have got just 2 embryos as normal. Will the pregnancy be viable?

Hi everyone, I see this sub is not that active but just posting in case someone still follows it and has some info/advice. I'm in late 20s and have been diagnosed with stickler syndrome some years ago. Appart from several eye issues, in the last 2 years sometime I have pain in my hands upon waking up which tends to pass after a while. This comes and goes and when it starts happening it can go on every day for months even. I have had a rheumatology appointment last year which showed no signs of arthritis but still the pain happens at times.

So, I'm wondering if others have the same experience since I'm not sure this is due to sticklers. If you do have the same issue and have some advice on how you deal with it I'd be happy to hear that. Thanks :)

I have sticker syndrome! I wonder if this subreddit is still active, as it's still considered a rare disease?

Hi everyone,

I just found this sub. I am 36F and my entire mom's side of the family has Stickler's. I had a retinal detachment right around my 18th birthday. I had the gas bubble, cryo, and a scleral buckle to repair it but my vision is very poor in that eye. In my mid-20s my eye pressure started to get too high so i've been trying to manage that for about a decade. Two weeks ago I had a cataract removed from my right eye. My brother had detachments in both eyes before middle school, and my uncles and grandmother all had detachments. My mom has glaucoma and as she has gotten older has struggled to keep her pressure down. That's a quick overview of my life with Stickler's. From browsing this sub it seems like a lot of y'all can relate.

Does anyone here experience tinnitus? I was diagnosed with Stickler syndrome last year and have some mild hearing loss. Last week, I started getting ringing in my right ear and, as of yesterday, there is pulsating in my left ear. I have an audiology test scheduled for late October and was just wondering if this could possibly be linked to having Stickler syndrome.

Hello everyone! I am studying further into the topic of health for women and gender bias' impacts. I am conducting an interview/survey to get further insight. Participants must be female, 18-35, and living in the Southern region of the U.S. If you choose to participate, your voice will be heard and can greatly contribute to addressing this issue in women's health. Thank you in advance. Please comment any questions or concerns, or email me (information in the link).

Here is the link: https://forms.gle/1tJEyYM4ihLtde5K7

Hello. I am glad that I thought to check to see if this subreddit existed. As the title says, I'm 41 male living in Texas. I don't know what exact type of sticklers I most likely have. Insurance/medical care and services tend to be a pretty cliche challenge in the US, especially in conservative controlled states like my own.

Despite now being on disability, I only recently was able to find a rheumatologist with even passing familiarity with the disease, and actual genetic testing is something he recommended but was not optimistic about being actually attainable.

2 years ago after invasive surgery to fix retinal detachment on my second eye, the surgeon who had performed retinal reattachments on both of my eyes at that point noted irregularities in my vitreous fluids(?) which coupled with my issues with cataracts that started being noticeable as early as the 8th grade, and more recent glaucoma issues, led him to give me a stickler's diagnosis.

Learning more about the disease allowed several irregularities about my body/health (throughout my life) to suddenly click into place.

At this point, I am a 41 year old widower with two young kids. My eye cataracts became intolerable and I finally had them removed several years ago despite my wife being in the middle of cancer treatment. When I couldn't recognize her face from 6 feet away, I shouldn't have been driving, but the desperation of our situation left only me to care for her and our kids, who were very small then.

After my cataract removal, my left eye developed retinal tears and started detaching. Despite having insurance, I still had to find a surgeon to take me on as a charity case for the massive portion my insurance wouldn't cover, and I was lucky to do so. After the costs of my wife's care, I had only been able to afford the cataract surgeries with help from family. At the same time, I was starting to buckle under the demands of work, caring for my family, and several other health issues that continued to worsen.

Because of my situation, the surgeon put oil in my left eye instead of the normal gas bubble, and told me that ideally we would keep the oil in for 6 months before removing it.

But, after this point I lost my job, and the little insurance I had. Between that, and my wife's condition worsening, I never made it to any of my followup appointments. I just kept focusing on enduring it until the 6 month mark. But, since I didn't go to any followups, I didn't realize that I shouldn't have needed to endure anything.

After the surgery I had a great deal of discomfort and pain, which continued to increase with time. I eventually regained some distorted light perception in the eye, but by the 6 month mark, that had faded and the pain I had in the eye was crippling. With family offering to help pay, I finally went to a followup appointment.

In that 6 months, my retina had healed well, but I had developed severe glaucoma in that eye and the optic nerve had been destroyed. After emergency surgery to remove the oil, I never recovered any sight and to this day severe glaucoma in that eye causes me near constant pain. A cocktail of eye drops helps some, but I have a very unusual reaction to any of the oral glaucoma medications. After a many month wait I eventually saw a glaucoma specialist, but due to how thin my eye tissues are due to sticklers, I am not a candidate for any of the traditional glaucoma procedures. Removing the eye is my only option for pain relief at this point, and right now that is still a bit too scary for me.

My right eye spontaneously started having retinal tears and detachments a couple years after the first, but by that time I no longer had to care for my wife, so my family helped me care for me and my kids during my recovery from surgery (after lasers didnt work) and made sure I got all my follow up care. I have fortunately regained most of the vision for that eye with very few complications and only minimal glaucoma.

Still, I have issues with eye strain and focusing for my one working eye that make many things a challenge.

In addition to my eye problems, I have the typical stiffness and loss of flexibility that has gotten worse with my age. Before my diagnosis, I dismissed the pains and issues as being a wuss and feeling sorry for myself when my wife was the one really sick.

Now, I have a couple untreated lower abdominal hernia, and I recently learned that the bottom disk in my back is herniated and pinching my nerves in my spine, which is why I have had so much extra pain and occasional issues with standing/walking in the past year.

Lately, I have come out of mourning for my wife and have finally been trying to address my many health issues and make them manageable, so that I could begin moving forward with my life, and find a way to maybe eventually provide a better life for my kids.

I am working with doctors for my back issues, and trying to figure out reasonable expectations and safe activity levels to avoid further injury going forward. I am working on finding something productive I can do from home, now that I can't do many things I did before.

One my main challenges is that my muscle stiffness makes it to where no posture is comfortable, especially traditional standing or sitting postures due to my back, and remaining in one position for long causes extra stiffness and cramping.

I have set up a large flatscreen attached to a laptop to ease my eye strain and focusing issues, but I can't find a way to comfortably work in front of it for any length of time.

I am looking into either kneeling or reclining ergonomic chairs. Kneeling would fit better with my space limitations and existing furniture, and would compliment how I constantly have to lean forward with my vision. Reclining would take up more space and require a new desk type solution, but it would offer me more flexibility in posture options that I could swap between.

Does anyone have any experience and recommendations in these areas?

I'm in the UK with type 1 Sticklers on COL2A1. I'm 42 and have had a retinal detachment in both eyes. I was only diagnosed after my children were born and a talented opthalmologist saw a beaded vitreous, mild hearing loss and hypermobility and referred us to Great Ormond Street Hospital in London.

Retinal detachments in Stickler patients follow a common tear pattern and it is a very difficult one for the eye surgeons to work on when detachments happen.

This cryotherapy reduces the risk of detachment from 80% down to about 8%. The team at Cambridge that do the surgery have about 30 years worth of data on this.

Does anyone else have any experience of this?

And your opthalmalogist and the retina specialist are both out this week -_-

I had to call around and found one doc who could get me in first thing tomorrow morning. Add in I’m 37 weeks pregnant and this is all happening in my good eye :(

I’d greatly appreciate any prayers or good thoughts/vibes you may have to offer!!