Listen to this page using ReadSpeaker

A Steady Hand in Saving Vision

Dr. Robert MacLaren performing eye surgery.A retinal researcher can develop the best vision-saving stem-cell or gene therapy ever imagined, but if the doctor or surgeon can’t deliver it to the retina safely and effectively, the treatment is worthless. It could even be harmful.

The retina is like a piece of wet tissue paper lining the back of the eye, which makes it a delicate and challenging target for therapy delivery. Retinas affected by disease like retinitis pigmentosa or age-related macular degeneration make them even more fragile and surgical procedures risky and difficult.

Many retinal therapies in clinical trials today are delivered underneath the retina by injection. For example, in gene therapy, the treatment involves putting the needle of a syringe through the retina and then injecting a tiny drop of liquid containing the therapeutic genetic cargo. Known as a bleb, the liquid raises and detaches the retina, but after the patient rests on his or her back for a few hours, the detachment resolves with the therapy being absorbed into retinal cells.

The following video shows the steady hand of Robert MacLaren, M.D., Ph.D., principal investigator and lead surgeon of the NightstaRx choroideremia gene-therapy clinical trial in the U.K., as he injects a bleb containing a gene therapy underneath the retina of a patient with choroideremia. If you have good vision and look carefully, you can see the bleb spread slowly and evenly near the injection site.

The biggest concerns with a subretinal injection of gene therapy are irreversible damage to the retina and ensuring the bleb gets to the cells that need it most.

Dr. MacLaren is pleased that he has been able to successfully and safely deliver the gene therapy underneath the fovea, the small “bull’s eye” of the retina that is rich in cones, the cells that provide central and color vision and the ability to read, recognize faces and drive.

“My main goal has been to detach the fovea, get the treatment in and get the vision back to baseline. I didn’t expect the foveas to degenerate, and I wouldn’t have done the study if I had,” says Dr. MacLaren. “But some patients have many years of useful vision left. I would have felt personally responsible if things hadn’t gone as planned.” Dr. MacLaren used a foot pump to provide a slow, sustained release of the bleb from the syringe.

He and his team recently reported that five of six people in the choroideremia gene-therapy clinical trial have had sustained vision improvement or preservation for 3.5 years.

Subretinal injection is the most common form of delivery for gene therapies currently in clinical trials, because it gets the treatment to the cells that need it. Researchers are also developing intravitreal delivery methods — injecting the therapy into the vitreous gel-like substance in the middle of the eye — because the procedure doesn’t involve piercing the retina with a needle or detachment. The challenge with an intravitreal injection is getting the therapy close to the affected retinal cells.

Pictured, top: Dr. Robert MacLaren performing eye surgery. Photo and video courtesy of Dr. MacLaren. 


35 Responses to 'A Steady Hand in Saving Vision'

  1. Devesh Kumar says:

    I am from India.My wife (27 year) is having Retinitis Pigmentosa. Please suggest any doctor or hospital who can cure this disease here in India

    • EyeOnTheCure says:

      Below is a listing of Medical Institutes in India that have expertise in treating retinal disease.

      L. V. Prasad eye institute, Hyderabad, Telangana.
      http://www.lvpei.org/

      Shankara Netralaya, Chennai, Tamilnadu:
      http://www.sankaranethralaya.org/

      Aravind Eye Hospital, Madhurai, Tamilnadu
      http://www.aravind.org/

      Battu eye care, Dr. Rajani Battu, Bangalore, Karnataka
      http://www.peopletreehospitals.com/profile.php?article_id=154

      L.V. Prasad eye institute, Bhubaneswar, Orissa
      http://www.lvpei.org/contact-bhubaneswar.php

      All India Institute of Medical Sciences, New Delhi
      http://www.aiims.edu/en.html

      All these institutes have well trained RD clinicians and they are all well equipped.

    • Somya says:

      Hii
      I am suffering from stargart disease please tell me some treatment .

      • EyeOnTheCure says:

        You will be pleased to know that the Foundation Fighting Blindness is partnering with Sanofi Pharmaceuticals on a gene therapy clinical trial for Stargardt disease. For more information on this trial, see the following link:
        http://clinicaltrials.gov/ct2/show/NCT01367444?term=stargardt&recr=Open&no_unk=Y&rank=2 In order to participate in this or any other gene therapy trial, you must first obtain a molecular (genetic) diagnosis. For information on genetic testing, please see the following web link to download a PDF document: http://www.blindness.org/sites/default/files/genetic_testing_booklet_201311rev.pdf

        You should also consider enrolling in “My Retina Tracker”, a free registry that helps link people with retinal disease to appropriate clinical trials that are recruiting. For more information on “My Retina Tracker” please see the following web link: https://www.myretinatracker.org/

        Of general interest, there is a “Stargardt – Macular Degeneration” Facebook page where people can communicate with other people affected by Stargardt disease. Here is the link: https://www.facebook.com/groups/Stargardts/

        Finally, below is a list of pharmaceutical companies that are developing therapies for Stargardt Disease:

        Acucela,( http://www.acucela.com/) is a Seattle-based biotechnology company that is developing several drugs for retinal diseases such as AMD, dry eye, diabetic retinopathy, retinopathy of prematurity and Stargardt disease. Acucela’s visual cycle modulators (VCM) reduce the activity of the rod visual system — in essence, “slowing it down” and reducing the metabolic load on the retina. Reducing the speed of the visual cycle has been shown to protect the retina from light damage and reduce the accumulation of retinal-related toxic by-products, including A2E, which is implicated in both Stargardt disease and dry AMD. The Company’s lead investigational compound (Emixustat™) completed Phase 3 trials for dry AMD in June 2016. Unfortunately, the drug failed to slow lesion growth in over 500 patients with geographic atrophy, a form of dry AMD. Because of a strong demonstration of efficacy in the Stargardt mouse model, Acucela is considering initiating a study to explore potential benefits of Emixustat in patients with Stargardt disease.

        Ocata Therapeutics (https://www.ocata.com/), a Santa Monica-based biotechnology company, has developed an RPE cell line that is derived from embryonic stem cells (ESC). Studies have shown that the subretinal transplantation of ESC-RPE cells in a rat RP model resulted in 100% visual function rescue. Functional rescue was also achieved in the Stargardt mouse model with near-normal functional measurements recorded at more than 70 days. The RPE cell transplantation studies are now in Phase 2 human clinicals. Here is the link to the Clinical Trials.Gov recruitment web page: http://www.clinicaltrials.gov/ct2/show/NCT01469832?term=advanced+cell+technology&rank=2
        *Note: It is not known how long the transplanted RPE cells will last in a human patient with Stargardt disease. Unless gene or pharmaceutical-based augmentation treatment is coupled to the RPE transplant, toxic A2E will continue to be produced and eventually kill the RPE cells.

        Alkeus, (http://alkeus.com/) Alkeus has developed a form of vitamin A that upon light interaction, does not form toxic vitamin A metabolites and A2E. Alkeus’ lead compound, ALK-001, is an oral compound with a well-understood mechanism of action. ALK-001 was specifically designed to treat Stargardt disease by preventing the formation of these toxic vitamin A dimers in the eye. Alkeus is currently recruiting patients for a Phase 2 human clinical trial. Here is the link to the clinical trials.gov recruitment page: https://www.clinicaltrials.gov/ct2/show/NCT02402660

        Vision Medicine (Previously Visum) The Foundation Fighting Blindness is partnering with Vision Medicine to develop a small molecule therapy Stargardt disease. Vision Medicine’s novel approach proposes to develop drugs that will temporarily control levels of A2E in the eye and preserve the natural vision cycle, leading to a therapeutic treatment. Vision Medicine has discovered a unique chemical approach to sequester rather than eliminate A2E. Through this process, 25 diverse FDA approved drugs demonstrating both mechanistic and in vivo efficacy have been identified. Vision Medicine has identified a lead compound, VM 200, which is an enantiomer of an FDA approved drug that demonstrates complete retinal protection in preclinical studies. Vision Medicine plans to conduct Phase I and Phase II clinical trials in the near future.

        To read more about the partnership between Vision Medicine and FFB, see the following web link:
        http://www.blindness.org/foundation-news/foundation-fighting-blindness-partners-vision-medicines-develop-stargardt-disease
        Thank you for your support that is helping to accelerate the development of new safe and effective treatments for inherited retinal disease.

    • mubashar says:

      can you check online that there is some stem cells therapy in india who can help you to find some quality vision reserve.. Check out and please confirm me to if you have any good news from there?

  2. delaere says:

    hi, 4 years ago we discovered that our son, born in 2003, suffered a retina pigmentosa, for the moment, he only suffers night blindness. his doctor is Professor Leroy Bart from the university of Gent, Belgium. he is developing gene therapy, even if i fully trust the professor, i would like to know if other therapies are more advanced or more efficient?

    • EyeOnTheCure says:

      You should consider genetic testing for your son to try and identify the mutant gene responsible for causing the disease. If the gene is identified, medical databases such as PubMed (http://www.ncbi.nlm.nih.gov/pubmed/) can be searched to identify any research that is being conducted. With a molecular diagnosis, one may also qualify for gene therapy trials that are taking place. For information on genetic testing, please see the following web link to download a PDF document:
      http://www.blindness.org/sites/default/files/genetic_testing_booklet_201311rev.pdf

      Whether your son’s disease gene is identified or not, you should still consider participating in FFB’s “My Retina Tracker”, a free registry that monitors clinical trials that are recruiting for various retinal diseases. For more information on “My Retina Tracker” please see the following web link:
      https://www.myretinatracker.org/

      It may also be helpful to periodically check the website: http://WWW.CLINICALTRIALS.GOV which is maintained by the National Institutes of Health and contains a searchable list of clinical trials for most known diseases. Each clinical trial listing will provide you with information on what the study is about, the requirements for participating and contact information. Thank you for your support that is helping to accelerate the development of new safe and effective treatments for inherited retinal disease.

  3. Patty Juarez says:

    My mom (53 yrs) and my brother (32) both have Retinitis Pigmentosa. We live in Arkansas and was hoping for any suggestions on doctors, hospitals, or any place we can go for help or treatments. Doesn’t matter if it’s in a different state we are just looking for any hope of a treatment that can help them both.

    • EyeOnTheCure says:

      You should consider genetic testing to try and identify the mutant gene responsible for causing the disease. If the gene is identified, medical databases such as PubMed (http://www.ncbi.nlm.nih.gov/pubmed/) can be searched to identify any research that is being conducted. With a molecular diagnosis, one may also qualify for gene therapy trials that are taking place. For information on genetic testing, please see the following web link to download a PDF document:
      http://www.blindness.org/sites/default/files/genetic_testing_booklet_201311rev.pdf

      Whether the disease gene is identified or not, one should still consider participating in FFB’s “My Retina Tracker”, a free registry that monitors clinical trials that are recruiting for various retinal diseases. For more information on “My Retina Tracker” please see the following web link:
      https://www.myretinatracker.org/

      It may also be helpful to periodically check the website: http://WWW.CLINICALTRIALS.GOV which is maintained by the National Institutes of Health and contains a searchable list of clinical trials for most known diseases. Each clinical trial listing will provide you with information on what the study is about, the requirements for participating and contact information. Thank you for your support that is helping to accelerate the development of new safe and effective treatments for inherited retinal disease

  4. gv says:

    28 yr Male suffering from RP. Where can this treatment be taken?

    • EyeOnTheCure says:

      You should consider genetic testing to try and identify the mutant gene responsible for causing the disease. If the gene is identified, medical databases such as PubMed (http://www.ncbi.nlm.nih.gov/pubmed/) can be searched to identify any research that is being conducted. With a molecular diagnosis, one may also qualify for gene therapy trials that are taking place. For information on genetic testing, please see the following web link to download a PDF document:
      http://www.blindness.org/sites/default/files/genetic_testing_booklet_201311rev.pdf

      Whether the disease gene is identified or not, one should still consider participating in FFB’s “My Retina Tracker”, a free registry that monitors clinical trials that are recruiting for various retinal diseases. For more information on “My Retina Tracker” please see the following web link:
      https://www.myretinatracker.org/

      It may also be helpful to periodically check the website: http://WWW.CLINICALTRIALS.GOV which is maintained by the National Institutes of Health and contains a searchable list of clinical trials for most known diseases. Each clinical trial listing will provide you with information on what the study is about, the requirements for participating and contact information. Thank you for your support that is helping to accelerate the development of new safe and effective treatments for inherited retinal disease.

  5. Kiran Venkatzesh Murthy says:

    I am Kiran from Germany(Indian Origin) having Retinitis Pigmentosa.Please suggest any doctor or hospital who can cure this disease here in Germany OR in India

  6. Onur Yılmaz says:

    Dear Sir/Madam,

    I am contacting you about my nephew, Asel. She is approximately 6 months old and it was realised that she has no vision from birth. In Turkey, she was diagnosed to have retina detachment and a surgery was performed in order to recover the problem. The doctors in Turkey say that we do not have anything to do except for waiting the retina to heal itself. Therefore, we started looking at the possible treatments abroad. The doctors also suggested the gene therapy however there is no implementation of this yet. We are ready to follow any suggestions and implement necessary actions. If a treatment is possible in the United States, we can arrange a visit.

    We appreciate your guidance/recommendations and please do not hesitate to contact me if you have any questions,

    Regards,
    Onur Yılmaz

  7. Pat Freeman says:

    I have autoimmune retinopathy and have lost all vision in my left eye and have 20/40 in right. I have been to Boston and to Michigan for treatment but my vision continues to decrees. Do you have a stem cell trial that I would qualify for?
    I live in Austin, Tx.

    • EyeOnTheCure says:

      Autoimmune retinopathy encompasses a spectrum of rare autoimmune diseases that primarily affect retinal photoreceptor function. Theoretically, vision restoration technology such as the ARGUS-2 visual prosthetic, optogenetics and/or stem cell treatments may be able to restore lost visual function.

  8. Chris Fernandez says:

    My father in law has yellow spot blindness . He is finding it harder to see and his slight is slowly disappearing . Is there any treatment that can reverse this ?

  9. adeel says:

    hi im adeel and im suffering from rp can you tell us any cure in pakistan any geneting testing in pakistan

    • EyeOnTheCure says:

      Dear Adeel, please see my response to JoAnne. I don’t know of any genetic testing in Pakistan but there are several places in India that will do it. Below is a listing of Medical institutes in India that have expertise in treating retinal disease. All of these institutes have highly trained ophthalmologist and are all well equipped.

      L. V. Prasad eye institute, Hyderabad, Telangana.
      http://www.lvpei.org/

      Shankara Netralaya, Chennai, Tamilnadu:
      http://www.sankaranethralaya.org/

      Aravind Eye Hospital, Madhurai, Tamilnadu
      http://www.aravind.org/

      Battu eye care, Dr. Rajani Battu, Bangalore, Karnataka
      http://www.peopletreehospitals.com/profile.php?article_id=154

      L.V. Prasad eye institute, Bhubaneswar, Orissa
      http://www.lvpei.org/contact-bhubaneswar.php

      All India Institute of Medical Sciences, New Delhi
      http://www.aiims.edu/en.html

    • BALBal says:

      How soon can we avail this treatment?
      Please reply for all.thrse question. We all are hopeful and are concerned for our dear neat ones.
      It can happen. It will….please work hard you doctors specially sent by God to this miracle.

      • EyeOnTheCure says:

        Dear Balbal, You should consider genetic testing to try and identify the mutant gene responsible for causing the disease. If the gene is identified, medical databases such as PubMed (http://www.ncbi.nlm.nih.gov/pubmed/) can be searched to identify any research that is being conducted. With a molecular diagnosis, one may also qualify for gene therapy trials that are taking place. For information on genetic testing, please see the following web link to download a PDF document:
        http://www.blindness.org/sites/default/files/genetic_testing_booklet_201311rev.pdf

        Whether your disease gene is identified or not, you should consider participating in FFB’s “My Retina Tracker”, a free registry that monitors clinical trials that are recruiting for various retinal diseases. For more information on “My Retina Tracker” please see the following web link:
        https://www.myretinatracker.org/

        You may also find it helpful to periodically check the website: http://WWW.CLINICALTRIALS.GOV which is maintained by the National Institutes of Health and contains a searchable list of clinical trials for most known diseases. Each clinical trial listing will provide you with information on what the study is about, the requirements for participating and contact information. Thank you for your support that is helping to accelerate the development of new safe and effective treatments for inherited retinal disease.

    • Bilal khan says:

      Sir where u r in Pakistan ?
      im from pakistan n my frnd have n diseace ofRp ..can u plz cntct me
      03348386614

      • EyeOnTheCure says:

        Dear Bilal, You should know that there are three inherited forms of RP: recessive, dominant and X-linked. If you are not sure which type you have, you should ask your ophthalmologist. For information on inheritance types, please see the following web link to download a PDF document on inheritance:
        http://www.blindness.org/sites/default/files/inheritance_of_retinal_degeneration_-_july_2012.compressed.pdf
        You should consider genetic testing to try and identify the mutant gene responsible for causing the disease. If the gene is identified, medical databases such as PubMed (http://www.ncbi.nlm.nih.gov/pubmed/) can be searched to identify any research that is being conducted. With a molecular diagnosis, one may also qualify for gene therapy trials that are taking place. For information on genetic testing, please see the following web link to download a PDF document:
        http://www.blindness.org/sites/default/files/pages/pdfs/Genetic-Testing-Booklet-V5.2-20151023.pdf
        You should also consider participating in FFB’s “My Retina Tracker”, a free registry that monitors clinical trials that are recruiting for various retinal diseases. For more information on “My Retina Tracker” please see the following web link:
        https://www.myretinatracker.org/
        Finally, you may find it helpful to periodically check the website: http://WWW.CLINICALTRIALS.GOV which is maintained by the National Institutes of Health and contains a searchable list of clinical trials for most known diseases. Each clinical trial listing will provide you with information on what the study is about, the requirements for participating and contact information. Thank you for your support that is helping to accelerate the development of new safe and effective treatments for inherited retinal disease.

  10. Sean Morris says:

    Please help me I have all the signs of retinitis pigmentosa I’m 45 black male have kids and wife that just finished chemo I’m sole provider I have no insurance insurance can’t afford it I’m scared and desperate can u help me I beg of u

  11. UKyle Stevens says:

    My family suffers from RP my father 55, his brother 57 and three of our cousin’s suffer from it. For the most part they are fully blind, is there any hope?

  12. Mira says:

    My husband(age 27) has RP Problem. Sometimes he has problem in night vision. Is there any treatment to cure this problem in USA? Please suggest me any doctor in USA.

    • EyeOnTheCure says:

      Dear Mira, Your husband should consider genetic testing to try and identify the mutant gene responsible for causing the disease. If the gene is identified, medical databases such as PubMed (http://www.ncbi.nlm.nih.gov/pubmed/) can be searched to identify any research that is being conducted. With a molecular diagnosis, one may also qualify for gene therapy trials that are taking place. For information on genetic testing, please see the following web link to download a PDF document:
      http://www.blindness.org/sites/default/files/pages/pdfs/Genetic-Testing-Booklet-V5.2-20151023.pdf
      Your husband should also consider participating in FFB’s “My Retina Tracker”, a free registry that monitors clinical trials that are recruiting for various retinal diseases. For more information on “My Retina Tracker” please see the following web link: https://www.myretinatracker.org/
      Finally, you and your husband may find it helpful to periodically check the website: http://WWW.CLINICALTRIALS.GOV which is maintained by the National Institutes of Health and contains a searchable list of clinical trials for most known diseases. Each clinical trial listing will provide you with information on what the study is about, the requirements for participating and contact information. Thank you for your support that is helping to accelerate the development of new safe and effective treatments for inherited retinal disease.

  13. Mark Headrick says:

    My son lost eye site in his left eye when he was 8 yrs. old due to a detach retina. 8 yrs. ago he had a detached retina in his right eye. After many surgeries unsuccessful it has let him without sight. The right eye is still alive and he can see light and dark and maybe a few shadows. This would be a miracle if he was a candidate. Because he is also Autistic it has made his world very small.

    Concerned Parent..

  14. Max Jones says:

    I’m really glad that I found your article talking about retina surgery, and how it is like a wet tissue that is really delicate to work on. My wife is going to be having retina surgery in the near future, and I think that helps us realize that we really need a great doctor to get the job done. We’re going to have to see if we can find a confident doctor to do her retina surgery who also has the necessary experience, and hopefully it’ll all turn out well for her! Thanks!

  15. Ami says:

    Hello ,my father have rp disease and he is 57 years old the left eye had blinded and other eye have weak sight vision ,now I want to know that how and when we can come to your country for treatment and how much priced for treatment for foreign people.

Leave a Reply

Your email address will not be published. Required fields are marked *

*