Autoimmune Retinopathy

Posted by Pedie @pedie, May 8, 2019

After 14 months of visiting doctors, my eye condition was diagnosed as autoimmune retinopathy. Unfortunately, it is an orphan disease. The doctor recommended the only treatment available, but the insurance company refuses to cover the cost because it is off-label. Any suggestions? Am told that if the disease continues to progress I will be blind.

@pedie Welcome. to our rent group. We arent Dr,s but helwhere can. I read you post above aout medicine I take it is eye drops. Have you asked Dr if there Is a generic that works a we'll talk to your Opthalmologist.

Liked by renm

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@pedie might it be possible to appeal the decision of the insurance company?

I'd like to bring @mmk69 and @greenjeans into this discussion. While they have Central Serous Retinopathy (CSR) and not Autoimmune Retinopathy (AIR), they may have some experiences to share with you.

Pedie, what limits to your eye sight are you currently experiencing? Are there studies about the effectiveness of this off-label treatment that prove to slow progression of the disease?

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I have appealed to BC, and Shands Clinic is appealing. Because it is an orphan disease, there are few studies, but the doctors believe that the treatment will slow or stop the destruction of my retina. I am losing color vision, have lost night vision, and in certain circumstances my vision is blurry. Since this condition can lead to blindness, I am extremely concerned.

Liked by renm

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@pedie

I have appealed to BC, and Shands Clinic is appealing. Because it is an orphan disease, there are few studies, but the doctors believe that the treatment will slow or stop the destruction of my retina. I am losing color vision, have lost night vision, and in certain circumstances my vision is blurry. Since this condition can lead to blindness, I am extremely concerned.

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@pedie I don't blame you I am concerned about my Macular Degeneration and glucoma I need to call my Dr as I was seeing waves in Left eye

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This is Pete. My fiance Mitchie has just been diagnosed with Autoimmune Retinopathy. We are terrified to say the least. After seeing several retina specialist, blood test, complete workup MRI with contrast to eliminate MS the final diagnosis has arrived.We Are told that its usually from colon cancer in women at her age group 55. From my research its an extremely rare disease. Can anyone please chime in on what we are to expect in the future?

Liked by drrex

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@mitchieandpete

This is Pete. My fiance Mitchie has just been diagnosed with Autoimmune Retinopathy. We are terrified to say the least. After seeing several retina specialist, blood test, complete workup MRI with contrast to eliminate MS the final diagnosis has arrived.We Are told that its usually from colon cancer in women at her age group 55. From my research its an extremely rare disease. Can anyone please chime in on what we are to expect in the future?

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Hello, @mitchieandpete. Welcome to Mayo Clinic Connect. Sounds as though you are your fiance's advocate with her autoimmune retinopathy, which is great. It also appears that you two have been very thorough in consulting with specialists to get a diagnosis for her.

Hoping that @imallears @cehunt57 @pedie and @johnbishop will have some input for you on what to expect for the future with this disease.

Will she be undergoing screening for colon cancer, then? What would you say is most terrifying about the autoimmune retinopathy diagnosis for you two right now?

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@lisalucier

Hello, @mitchieandpete. Welcome to Mayo Clinic Connect. Sounds as though you are your fiance's advocate with her autoimmune retinopathy, which is great. It also appears that you two have been very thorough in consulting with specialists to get a diagnosis for her.

Hoping that @imallears @cehunt57 @pedie and @johnbishop will have some input for you on what to expect for the future with this disease.

Will she be undergoing screening for colon cancer, then? What would you say is most terrifying about the autoimmune retinopathy diagnosis for you two right now?

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@lisalucier
Hi,
Just to clear up, I have no experience with autoimmune retinopathy. I have had a detached retina 25 years ago and currently have macular edema which is being treated with Avastin injections . Avastin is used as an off label drug meaning it was originally used for cancer treatment but has been used successfully for macular edema and is one of the several drugs currently used by eye specialists to treat the edema.

FL Mary

Liked by Lisa Lucier

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@mitchieandpete

This is Pete. My fiance Mitchie has just been diagnosed with Autoimmune Retinopathy. We are terrified to say the least. After seeing several retina specialist, blood test, complete workup MRI with contrast to eliminate MS the final diagnosis has arrived.We Are told that its usually from colon cancer in women at her age group 55. From my research its an extremely rare disease. Can anyone please chime in on what we are to expect in the future?

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Hi Pete @mitchieandpete, I would like to add my welcome to Connect along with @lisalucier and other members. Thank you for being an advocate for your fiance. I have no experience with autoimmune retinopathy but found some articles that may provide some information for you if you have not already seen them.

Diagnosis and Management of Autoimmune Retinopathy
https://www.aao.org/eyenet/article/diagnosis-and-management-of-autoimmune-retinopathy

Immune Cell Infiltration Into the Eye Is Controlled by IL-10 in Recoverin-Induced Autoimmune Retinopathy
https://pubmed.ncbi.nlm.nih.gov/30635390-immune-cell-infiltration-into-the-eye-is-controlled-by-il-10-in-recoverin-induced-autoimmune-retinopathy/

Non-paraneoplastic autoimmune retinopathy: multimodal testing characteristics of 13 cases
https://joii-journal.springeropen.com/articles/10.1186/s12348-019-0171-1

If you are not familiar with Google Scholar (https://scholar.google.com/), it's a great tool for finding the latest medical research type of information. You can sort the search results by year. Hoping another member with experience with autoimmune retinopathy can provide you with some more information.

Liked by Lisa Lucier, drrex

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@pedie I know that it has been some time since your post, but I want nonetheless share some possibly useful information that I found in scientific literature. I hope that in the meantime you condition has at least stabilized.
I also have been diagnosed with npAIR and I'm experiencing continuing loss of in my visual field despite being on immunosuppressors since one month now. I'm not a physician, but as a molecular biologist and researcher I think I can grasp enough of the medical literature to make some reasonable hypothesis. After reading a lot of case reports and retrospective case studies my idea is that the cases that are classified under non-paraneoplastic AIR are actually still a collection of medical conditions with similar symptoms but possibly different etiologies. In my case for example no major anti-retinal antibodies have been detected! This would also explain why some patients respond to some therapies, while other do not or, conversely, why in some patients the progression of the symptoms stops spontaneously. One possible cause for npAIR has been hypothesized as the local reactivation of viruses belonging to the herpes family and in some cases a therapy with antivirals has been attempted with success. I was able to convince my physicians of that and since three days I'm now, parallel to immunosuppression, also on valacyclovir.
Given the low risk, but possible high gain of such therapy I'm convinced such an attempt should be made as first line treatment as soon as the diagnosis of npAIR is suspected (also because immunosuppressive therapy may actually be counterproductive if the origin is viral).
I hope this helps… I'll keep you posted about how this therapy works on my side.
Fabio

PS: I wanted to post here some links to supporting literature but as newly registered member I'm not allow to include URLs. Please search for these two papers:
1. Vinit B. Mahajan and Edwin M. Stone (2010) Patients with an Acute Zonal Occult Outer Retinopathy-like Illness Rapidly Improve with Valacyclovir Treatment. Am J Ophthalmol. 2010 Oct; 150(4): 511–518.
2. Saira Khanna, Aline Martins, […], and Mihai Mititelu. (2019). Non-paraneoplastic autoimmune retinopathy: multimodal testing characteristics of 13 cases. Non-paraneoplastic autoimmune retinopathy: multimodal testing characteristics of 13 cases. J Ophthalmic Inflamm Infect. 2019; 9: 6. (See patient #5, Fig. 4)

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@drrex

@pedie I know that it has been some time since your post, but I want nonetheless share some possibly useful information that I found in scientific literature. I hope that in the meantime you condition has at least stabilized.
I also have been diagnosed with npAIR and I'm experiencing continuing loss of in my visual field despite being on immunosuppressors since one month now. I'm not a physician, but as a molecular biologist and researcher I think I can grasp enough of the medical literature to make some reasonable hypothesis. After reading a lot of case reports and retrospective case studies my idea is that the cases that are classified under non-paraneoplastic AIR are actually still a collection of medical conditions with similar symptoms but possibly different etiologies. In my case for example no major anti-retinal antibodies have been detected! This would also explain why some patients respond to some therapies, while other do not or, conversely, why in some patients the progression of the symptoms stops spontaneously. One possible cause for npAIR has been hypothesized as the local reactivation of viruses belonging to the herpes family and in some cases a therapy with antivirals has been attempted with success. I was able to convince my physicians of that and since three days I'm now, parallel to immunosuppression, also on valacyclovir.
Given the low risk, but possible high gain of such therapy I'm convinced such an attempt should be made as first line treatment as soon as the diagnosis of npAIR is suspected (also because immunosuppressive therapy may actually be counterproductive if the origin is viral).
I hope this helps… I'll keep you posted about how this therapy works on my side.
Fabio

PS: I wanted to post here some links to supporting literature but as newly registered member I'm not allow to include URLs. Please search for these two papers:
1. Vinit B. Mahajan and Edwin M. Stone (2010) Patients with an Acute Zonal Occult Outer Retinopathy-like Illness Rapidly Improve with Valacyclovir Treatment. Am J Ophthalmol. 2010 Oct; 150(4): 511–518.
2. Saira Khanna, Aline Martins, […], and Mihai Mititelu. (2019). Non-paraneoplastic autoimmune retinopathy: multimodal testing characteristics of 13 cases. Non-paraneoplastic autoimmune retinopathy: multimodal testing characteristics of 13 cases. J Ophthalmic Inflamm Infect. 2019; 9: 6. (See patient #5, Fig. 4)

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@drrex, welcome to Mayo Clinic Connect. You're right. There is a brief period where new members can't post links. We do this to deter spammers and keep the community safe. Clearly the links you wanted to post are not spam, so allow me to add them here:

1. Patients with an Acute Zonal Occult Outer Retinopathy-like Illness Rapidly Improve with Valacyclovir Treatment. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4669885/
2. Non-paraneoplastic autoimmune retinopathy: multimodal testing characteristics of 13 cases. Non-paraneoplastic autoimmune retinopathy: multimodal testing characteristics of 13 cases.https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6391508/ (patient #5, see figure 4)

I hope the antiviral works in your case Drrex, Are you starting with the typical 7-day prescription or for a longer period?

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@colleenyoung, thank you for reposting the direct links to the papers! Yes, at the moment the plan is to follow a parallel therapy with 3-grams of oral valacyclovir daily for 1-week and then 1-gram daily for an additional 3-weeks. I'm aware that is a long shot since the literature is rather anecdotic, but if my hypothesis is correct the potential benefits greatly outweight the risks. I had the chance to encounter a team of doctors that was ready to listen to my points and, after their medical evaluation, agreed to perform an attempt. This is very important for me because, in any direction this will go, at least I know that no stone was left unturned…

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@drrex

@colleenyoung, thank you for reposting the direct links to the papers! Yes, at the moment the plan is to follow a parallel therapy with 3-grams of oral valacyclovir daily for 1-week and then 1-gram daily for an additional 3-weeks. I'm aware that is a long shot since the literature is rather anecdotic, but if my hypothesis is correct the potential benefits greatly outweight the risks. I had the chance to encounter a team of doctors that was ready to listen to my points and, after their medical evaluation, agreed to perform an attempt. This is very important for me because, in any direction this will go, at least I know that no stone was left unturned…

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I'll be interested to hear the results of your treatment, and if this is right for you, when you noticed any changes (hopefully improvements). I appreciate your sharing it here.

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@colleenyoung

I'll be interested to hear the results of your treatment, and if this is right for you, when you noticed any changes (hopefully improvements). I appreciate your sharing it here.

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@colleenyoung, I'll definitely let you know!

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@drrex

@colleenyoung, I'll definitely let you know!

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@colleenyoung Just to let you know… After almost two weeks of valacyclovir treatment I see no noticeable improvement or stabilisation!
In the literature responsive patients noticed rather quick benefits, so I guess it doesn't work for me. 🙁
In any case this is an approach that I would not exclude beforehand as the potential benefits outweigh the risks.
I'm extremely grateful to my physicians for letting my try this therapy: I knew it was a remote chance, but at least I won't live with the "what if" doubt for the rest of my life.

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@drrex

@colleenyoung Just to let you know… After almost two weeks of valacyclovir treatment I see no noticeable improvement or stabilisation!
In the literature responsive patients noticed rather quick benefits, so I guess it doesn't work for me. 🙁
In any case this is an approach that I would not exclude beforehand as the potential benefits outweigh the risks.
I'm extremely grateful to my physicians for letting my try this therapy: I knew it was a remote chance, but at least I won't live with the "what if" doubt for the rest of my life.

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Darn, @drrex. I know you knew this was a remote hope. None-the-less, it was a hope that is now a disappointment. That's always hard to accept. What's next for you?

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