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Gyrate Atrophy

What is Gyrate Atrophy?

Gyrate Atrophy is a rare hereditary metabolism disorder primarily affecting the retina.

 

Gyrate Atrophy is a rare hereditary metabolism disorder primarily affecting the retina.
Acknowledgement of Gyrate Atrophy has not been added yet.
Synonyms for Gyrate Atrophy has not been added yet.
Gyrate Atrophy is caused by a mutation of a gene found on chromosome 10. This gene is responsible for encoding an enzyme called ornithine ketoacid aminotransferase (OAT).
There are several symtpoms that affect patients with Gyrate Atrophy.
Name Description
High levels of ornithine in the blood High levels of ornithine in the blood
Tunner vision Tunner vision
Night blindness Night blindness
Myopia Myopia
Progressive vision loss Progressive vision loss
Posterior subcapsular cataracts Posterior subcapsular cataracts
Muscle fiber abnormalities (type II) Muscle fiber abnormalities (type II)
Reduced ornithine aminotransferase level Reduced ornithine aminotransferase level
Blindness Blindness
Diagnosis of Gyrate Atrophy has not been added yet.
Diagnostic tests of Gyrate Atrophy has not been added yet
Low Protein Diet
Prognosis of Gyrate Atrophy has not been added yet.
Tips or Suggestions of Gyrate Atrophy has not been added yet.
References of Gyrate Atrophy has not been added yet.
Diet tips? Created by Karabi
Last updated 26 Apr 2018, 06:08 PM

Posted by hannah2012
26 Apr 2018, 06:08 PM

Hi Karabi, 

This is not a very active group unfortunately as you can see by the slow responses or no responses... I am 39 years old and was diagnosed when I was 14 at which time i did not follow the diet well. Right now I am more or less on track with diet and regular doctor visits with local doctors at Inherited Metabolic Deceases Clinic. I am a bit old fashioned in tracking my daily protein, i simply use paper. I could not find an easy to use phone app for myself. I basically write down protein amounts for foods I eat either from memory (for more common and frequent foods) or from the food labels. If you had any specific questions, I can try and answer them for you and your daughter. 

I am not aware of anything related to GA and gene therapy. 

On the other hand, I had a question for you. Was it recently that you went to NIH and Dr Valle? i was seeing them many years ago, probably last time was in 2005 and I thought both programs were closed. Is that so or are they still seeing patients currently? 

Thanks. 

Anna

Posted by Karabi
17 Apr 2018, 01:01 PM

Hi,

I just joined this group and am happy to find some fellow travelers. My daughter is almost 20 and was diagnosed when she was 16. We were at NIH for a while and now are seeing folks at Hopkins including Dr Valle. She has really struggled with the diet, especially how to track it. She was using the weight watchers app to get the protein levels but then just using a note to add them up over the day. Does anyone have any tips on how to track the protein preferably on a phone?

Second, can anyone share any information on gene therapy? I know it has been approved for some diseases but GA isn't even in the pipeline as far as I know. How could we advocate for that?

Thanks!

Karabi

New members, foundation, increase communication Created by mbrnnrbrwn
Last updated 29 Nov 2017, 07:53 AM

Posted by hannah2012
29 Nov 2017, 07:53 AM

Hi Missy, 

I have not logged in here for a while and maily because this group has not been very active. I am 38 years old and was diagnosed when I was 14. If you or your daughter would like to talk, I can try to find some time. I can share my diet regiments if you would like. I struggle from time to time, especially having a family and 2 kids.... :)

I was just reading one of your posts ""Another family is going to Finland to see a genetic specialist"" - do you have any information on the doctor or clinic this family is going to see or have them gone yet? From my knowldege, Finland has the biggest number of GA cases in the world, so perhaps they might be doing more research than here in US. 

Thanks, 

Anna

 

 

Posted by mbrnnrbrwn
10 Aug 2017, 04:14 PM

Sean,

Thanks for the note.  I know the diet is hard.  I try not to push, but it is hard to see her struggle with energy levels and I believe if she took the EAA suppliment she would feel better.  She has been vegetarian for about 5 years. 

i remember chatting with you via email when Rachel was first diagnosed.  I will give her your email and if she decides to contact you than great.  I have ran a few marathons in my younger years for luekemia research and the cystic fibrosis.  I would love to start a fundraising group just for GA.  

I lady from Potland Oregon just contacted me.  She was original diagnosed with a different eye disorder.  She will be traveling to visit with Dr Valle in the fall.  Hopefuly, i will be able to go up and meet her.

Have fun traveling the world.  

Missy

 

Posted by Solarsean
5 Aug 2017, 05:04 PM

Hello, 

I have GA and would be willing to speak to your daughter if she is up to it. I am 35 and was diagnoised when I was around 12. I can definitely relate to being done with doctors and diets. To be honest, I still struggle with diet. I try to be vegeterian mostly but I am not following a strict diet or taking any supplements though I should be. I grew up in Boston and saw Dr Berson at Mass Eye and Ear. I have been living in San Francisco for 10 years and seeing Jaque Duncan at UCSF. I developed cataracts about 2 years ago but we are currently waiting until they progress further before having surgery. I got a sabbatical from my job last year and I am currently travelling in Latin America while I still can travel independently. I stopped driving at night due to vision loss but luckly still have pretty good central vision. 

Not sure best way to approach your daughther or get her more "motivated" so to speak. I still struggle with acceptance of my vision loss and acceptance is definitely a moving line. Some days are better than others. Too be honest, I like to think that GA made me appreciate life more because I know one day I might not be able to see the ocean, a sun rise, mountains, friends, family, etc and I try to appreciate life moments and take it all in. But that is also coupled with the thought if I am going to go blind whats the point of following the diet and I should just live my life to the fullest while I can and deal with "it" the blindness later. It can be a tough burden for sure but overall I am still pretty positive with life but struggle with following a strict diet. I share these personal thoughts to maybe help you understand what your daughter might be struggling with but we all deal with it differently and she could be in another space. I did see a vision loss therapist for a bit. It helped to vocalize some of my thoughts and concerns but since I can still do most things by myself I decided to stop and maybe if my vision gets worst I would go back. 

I think you added me on facebook but here is my email if you or anyone else wants to connect. seanmcgaugheyis@gmail.com

Interesting about the marathon, I am training for a half marathon in Colombia and thinking about doing the boston marathon in April. My dad ran it a few years back and raised money for boston mass eye and ear hospital but it would be awesome to find a GA specific doctor or fund that we could raise money for directly. 

Hope all have a great day. 

Sean McGaughey

View Full Thread (3 more posts)
Questions on cataracts & Looking to create a Foundation Created by marymc
Last updated 3 Aug 2017, 01:01 AM

Posted by mbrnnrbrwn
3 Aug 2017, 01:01 AM

Mary, Hannah, and Jenny,

I have finally been able to get back on rareshare.  I originally started this group when Rachel was diagnosed with GA when she was 10.  She will be 20.  She does have cataracks and is considering surgery, so I am very interested in this feed.  She just tried tow different types of drops and it did not reduce the swelling.  Bummer, though I am not sure she was good about daily use.  She has given up the diet. She is a vegetarian, so is on a reduce protein diet, but not a low protein diet.  She did try a mickie tube for about a year and that was helpful.  She was able to consume 20 grams of medical protein and live on about 20 grams natural protein.  I think she might go back to that when she is out of college.  

Thanks,

Missy

 

I have had about 

Posted by marymc
28 Mar 2014, 02:19 AM

Thanks to all for responding to my question on cataracts. I was asking because my son has recently been diagnosed with cataracts. He lives in San Francisco. I was concerned he wouldn't able to receive treatment because his eyes are fragile with the gyrate atrophy. His retina specialist in Boston is conservative in his treatments. He doesn't like to risk any sight loss or create any acceleration or progression of vision loss. Sincere thanks to everyone for responding. This is wonderful news. If Anyone wants to share any other tips on diet control, formulas or great doctor contacts, it would be helpful to all to post a list. Also, my sons doctor always says to talk to all doctors, interns and residents to get the awareness and create interest in gyrate atrophy - maybe spark someone to complete research studies. Thanks again!!! Mary

Posted by hannah2012
27 Mar 2014, 08:02 PM

Mary, I did cataract surgery in Colorado where is live. I was very happy with my doctor and the results. Which state are you in? I am assuming you would not want to travel for a cataract surgery since those are very common, you just should find a good local doctor for this. Anna

View Full Thread (5 more posts)
clinical Trials Created by ahlabib
Last updated 26 Aug 2016, 04:23 PM

Posted by ahlabib
26 Aug 2016, 04:23 PM

Dear GA community Has anyone heard of any clinical trials in regards to Gyrate Atrophy, I keep reading that Gene Therapy is advancing, but I haven't heard of any in regards to OAT. Hope to hear from you all

Hello Created by colin
Last updated 26 Mar 2014, 06:44 PM

Posted by marymc
26 Mar 2014, 06:44 PM

Colin, I hope all is well. I was wondering if you have been treated for your cataracts? My son has developed cataracts in both of his eyes. He is uncomfortable. Any other news or updates for treatment or research. I look forward to ant information. Sincerely, Mary McGaughey Email mary4mcg@gmail.com

Posted by SPICKLE
20 Aug 2009, 12:01 AM

I have a question for Colin on this feed. My son has had a 'Goldman visual field test' in one eye. The opthamogist has had his drivers license revoked based on this test. He is scheduled to take a 'binocular Goldman' test in the next 2 weeks - (both eyes). He is terrified to do so because it may 'seal his fate' regarding driving. It sounds like you are still driving. How is that? I am trying desperately to help him. Any suggestions? A Mom

Posted by colin
18 Jul 2009, 04:51 PM

Jen I was a vegetarian for a about 15 months but I eat meat etc now again. I've noticed recently that some sports like badminton it's harder to track the birdy. I was not one of the 5% where vitamin B6 lowered my ornithine levels significantly unfortunately. Missy I have a bunch of links etc that I will post to articles and research etc into RP and GA. (I don't have them on my laptop here). There is one company called optobioncs (http://optobionics.com/) that are studying a solar retina implant for RP patients. Balancing the diet with proper growth and nutrition is difficult. I commend you for being able to do it. I could not justify the negative health implications at the time. Perhaps if my vision gets significantly worse I might consider the diet again. In the meantime I'm hoping for a more effective treatment. I'm currently working on a project to show pictures of what I see with GA. My goal is show "here are my ERG results etc and this is what I see."

View Full Thread (3 more posts)
Hello, I am new to this forum. Created by hannah2012
Last updated 25 Apr 2012, 12:22 PM

Posted by ahlabib
25 Apr 2012, 12:22 PM

Hi Hannah My son is 19, and he was diagnosed 10 years ago. In addition to the diet, we moved away from teh Vitaflo because he couldnt stand it -- we changed to another AMino supplements that seems to work for him, and kept his Orn level at 200s. I dont login to rareshare a lot -- but if you have contact details, will be happy to chat with you and discuss further.

Posted by mbrnnrbrwn
25 Apr 2012, 11:36 AM

Welcome A, This is not an active group, but it is nice to know there are a group of people here who understand what you are going through. My daughter has GA. She is now 14 and as diagnosed 3 years ago. I think the diet is the hardest part. She is drinking Vitaflos EEA formula. She is suppose to drink 4 packets, but probably averages 1.5 packets a day. She is also suppose to take a creative supplement, but that rarely happens. We have moved and need to set up an appointment with a new geneticist and dietician. We have not checked her ornithine levels since this summer. She is hovering around 600, prior to diet is was around 1,200. Thanks for joining. There is also a small group on Facebook, it is relatively quiet too, Missy

Posted by hannah2012
24 Apr 2012, 05:45 AM

Hello everyone! I am not sure if there are any active participants in this forum right now as the last post I read was from 2 or 3 years ago. I have been diagnosed with GA about 19 years ago, I have been on and off and back on the diet and I am currently working with my doctors on finding the best dietary approach. I am also current with my eye doctors on check ups and such. I was hoping to share and learn about experiences of other patients with GA in regards to diet, treatments, eye doctors, etc. Hope to hear back from someone soon. A.

welcome new members and hello Created by mbrnnrbrwn
Last updated 7 Feb 2010, 02:23 PM

Posted by mbrnnrbrwn
7 Feb 2010, 02:23 PM

Wow! We are a quiet group. I hope all is well with everyone and their families this winter. Just an FYI Sean has created a group on facebook, it is quiet like this group, but it is growing. It looks like we has 15 members, please introduce yourselves if you haven't already. My daughter is now 12 and her ornithine levels have gone up since summer. 350; 450; and now 650. She has just added creatine to her list of supplements because her creatine numbers are a 10% of the normal number. She is scheduled to see the geneticist next month, so i will take her to get her blood taken again soon. Hopefully the lab won't do the wrong blood tests again. Very frustrating... JenD and AHH, sorry i never responded to your emails last month or so, I was having computer problems and lost all old email addresses. Would everyone feel more comfortable to discuss issues and concerns if this was part of a private yahoo group or like forum? Trying to figure out a way we could support each other. Thanks, Missy (mom to 4, 12 yr old girl w/GA)

Newest Member - research update? Created by drosee
Last updated 11 Aug 2009, 12:56 PM

Posted by mbrnnrbrwn
11 Aug 2009, 12:56 PM

Ed and Nancy, Glad you found us. Rachel is 11 soon to be 12. So, Bri was diagnosed at 7? Rachel hs been on the diet almost a year. It has definitely been a rough year, changing an 11 year olds diet is interesting. We have found a local PKU family to communicate with. I think Rachel would love to hear from Bri. She feel so alone sometimes with GA. Rachel drinks 4 packets of vitaflos EEA formula, 6 grams creatine, calcium vitamins, omega 3 vitamins, and multi vitamin. She is good probably 5 out of 7 days, though this summer she has been off diet more than on. Bri's dietician should be able to tell you about Vitaflo. We see Rachel's geneticist on the 24th, so if you have any questions for him, let me know. Need to sign off for now. Leaving for vacation in 12 hours. Missy

Posted by drosee
10 Aug 2009, 12:59 PM

Hi everyone, Nancy and I are parents of Bri... a 16 yr old diagnosed with GA over 9 years ago. I've sent her an invite so hope she joins the group. Like most of us, we have some good and not so good days with the protein restrictive diet - tough when you're a teenager. I saw that a couple of you were discussing emergng treatments in Europe and supplements like Vitaflo. Would love to hear what you've found... as great as the Internet is, there seems to be very little about emerging GA treatments. Thanks, hope to hear from some of you. Ed & Nancy

Spanish speaking patient Created by mbrnnrbrwn
Last updated 17 Jul 2009, 01:53 PM

Posted by mbrnnrbrwn
17 Jul 2009, 01:53 PM

Were had an appointment with Rachel's geneticist and dietician. Her dietician mentioned a young boy who was just diagnosed in Mexico, but they can only email in spanish. Is there anyone on our site who could converse/email with the parents? Thanks, Missy

Hello Created by Lesli
Last updated 3 Feb 2009, 10:05 PM

Posted by Lesli
3 Feb 2009, 10:05 PM

Jen, Sorry for the delay in my response. I am sure you understand having a 7mth old really keeps you busy! I understand how guys can be, but I would be glad to talk to him if he is ever interested. Honestly though I feel the same way he does about not worrying about it until he is blind. I mean I know it's a horrible thought, but it really could be worse. I am just thankful for everyday that I can see, although I may not have the best vision at least I can see for now. Sure my nearsightedness is horrible, it is -10, but it has stayed that way for several years at least since '02 maybe longer. I take one day at a time and live life to the fullest. It really could be worse; we could have some sort of disease where we were in severe pain all the time. I agree he is too young to have to make a decision on a career choice for when he looses his vision. I agree he should follow his dreams. Who knows he may never have to even have to have a second career choice. I know in the back of my mind that one day I may very well be blind, but I can't worry about that now. Life is full of surprises; there may be a cure tomorrow! If you would like to email me my email address is 88amp@comcast.net. Hope to hear from you soon. -Lesli

Posted by JenD
31 Jan 2009, 08:24 PM

Lesli, I wish that I could get Rick to talk to you; however he's a guy and he'd rather not talk about it. He says he's not going to worry about it until he's blind. But he can't imagine living his life without his eyesight. I've told him that you were 24 and haven't had a lot of vision changes. Right now at our community college he's taking a welding class. His first career choice has always been a heavy equipment operator. He also is considering heating and air. My husband is very talented mechanically and craftsmany.(don't think that's a word) Combine that with a large family and my husband has done every home improvement in our house. (with Rick beside him) He and Rick just installed a wood burning outdoor boiler. Rick played a major roll in the plumbing and wiring of the pumps. Our metabolic Dr. told him that he should probably have two career plans. His first choice, and one that he could do without his vision. We haven't found one for that second condition, but I also think he's too young to decide that. I think we let him follow his dream and then as he matures and his sight changes he can make those adjustments. I wish that the margins were wider on this site. We're going to need to make a new topic. It's good hearing from you.- Jen

Posted by Lesli
31 Jan 2009, 04:26 PM

Missy, Like I told Jen if you are not already being seen at NIH I highly recommend it. Dixen, my son, will be 7 months old this Friday February 6. They could remove the cataracks but they haven't really gotten bad enough for them to really want to worry with them. I really mainly only notice them at night if I am driving. When I was first put on the diet it was a study at the time. Being a patient of NIH you are part of studies another reason why I need to go back. Actually I am planning on calling the doctors up there possibly this week to see about scheduling an appointment for myself and to see about getting Dixen tested. I have always tried to keep a positive attitude. I agree it is very important. At least I can still see, maybe not the best, but it's better than nothing. If I do loose my sight one day at least I have been blessed with many years of being able to see the world. Some people never get that. But no matter what happens I will stay strong, it could be a lot worse! Hope to be talking with you again soon. -Lesli

View Full Thread (8 more posts)
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Genes and Disease

Information about Gyrate Atrophy of the Choroid and Retina from the National Center for Biotechnology Information

03/20/2017

Clinical Trials


Cords registry

CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access.

Enrolling is easy.

  1. Complete the screening form.
  2. Review the informed consent.
  3. Answer the permission and data sharing questions.

After these steps, the enrollment process is complete. All other questions are voluntary. However, these questions are important to patients and their families to create awareness as well as to researchers to study rare diseases. This is why we ask our participants to update their information annually or anytime changes to their information occur.

Researchers can contact CoRDS to determine if the registry contains participants with the rare disease they are researching. If the researcher determines there is a sufficient number of participants or data on the rare disease of interest within the registry, the researcher can apply for access. Upon approval from the CoRDS Scientific Advisory Board, CoRDS staff will reach out to participants on behalf of the researcher. It is then up to the participant to determine if they would like to join the study.

Visit sanfordresearch.org/CoRDS to enroll.

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Discussion Forum

Diet tips?

Created by Karabi | Last updated 26 Apr 2018, 06:08 PM

New members, foundation, increase communication

Created by mbrnnrbrwn | Last updated 29 Nov 2017, 07:53 AM

Questions on cataracts & Looking to create a Foundation

Created by marymc | Last updated 3 Aug 2017, 01:01 AM

clinical Trials

Created by ahlabib | Last updated 26 Aug 2016, 04:23 PM

Hello

Created by colin | Last updated 26 Mar 2014, 06:44 PM

Hello, I am new to this forum.

Created by hannah2012 | Last updated 25 Apr 2012, 12:22 PM

welcome new members and hello

Created by mbrnnrbrwn | Last updated 7 Feb 2010, 02:23 PM

Newest Member - research update?

Created by drosee | Last updated 11 Aug 2009, 12:56 PM

Spanish speaking patient

Created by mbrnnrbrwn | Last updated 17 Jul 2009, 01:53 PM

Hello

Created by Lesli | Last updated 3 Feb 2009, 10:05 PM


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