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Making Accurate Diagnoses Possible

As most people affected by retinal diseases know, firsthand, there are relatively few eye doctors who understand and can accurately diagnose those diseases. It can take referrals to several doctors before finding one — often at a Foundation-funded research center — with the knowledge and diagnostic tools necessary to determine which retinal disease is causing a patient’s vision loss.

With that said, even doctors knowledgeable about inherited retinal diseases can have a difficult time making a definitive diagnosis. Retinitis pigmentosa (RP) can look like cone-rod dystrophy; cone-rod dystrophy can look like Stargardt disease; choroideremia and RP can be similar in appearance; and the list goes on.

But while they may present similarly, these conditions are different. Patients need to be accurately diagnosed and characterized so they can understand their prognosis, and how the condition might affect other family members. Knowing the disease and the characteristics of vision loss will also help determine which emerging therapies and clinical trials are appropriate for them.

The Foundation is facing this challenge head-on by providing mentorship and diagnostic training opportunities to three promising doctors through its Career Development Award (CDA) program. In addition to familiarizing up-and-coming talent with various inherited retinal diseases, CDAs encourage them to commit their careers to treating patients affected by those diseases and building overall knowledge of the conditions through research. To date, we’ve invested nearly $12 million to bring almost 100 doctors into the field.

This year, the Foundation gave CDAs of $65,000 each to three talented, up-and-coming clinical researchers.

Based in Detroit’s Kresge Eye Institute at Wayne State University, Joaquin Tosi, M.D., will conduct retinal imaging and sensitivity studies to evaluate disease progression in pediatric patients, including newborns. The knowledge he gains will help better diagnose patients, design clinical trials for emerging therapies and identify the best candidates for human studies.

Currently a vitreo-retinal surgeon at the Kellogg Eye Center, University of Michigan, Nieraj Jain, M.D., will visit Oregon Health & Science University, where he will be mentored by Foundation-funded experts Richard Weleber, M.D., and Mark Pennesi, M.D., Ph.D. Dr. Jain will see patients with inherited retinal diseases and conduct advanced imaging studies, using optical coherence tomography, of people with choroideremia.

The third recipient, Brian Hafler, M.D., Ph.D., will see patients with Foundation-funded clinical researchers Eliot Berson, M.D., and Eric Pierce, M.D., Ph.D., at Massachusetts Eye and Ear Infirmary. He will also conduct research to further understand the molecular defect resulting in retinal degenerations that occur due to mutations in the PRPF family of genes, which are linked to several forms of autosomal dominant retinitis pigmentosa. Dr. Hafler’s goal is to translate the knowledge he gains from his research into gene therapy development.

It’s remarkable how successful our CDA program has been. It helped advance the careers of the best of the best, including Paul Sieving, M.D., Ph.D., director of the National Eye Institute and former director of the FFB-funded research center at the University of Michigan. It also supported Jean Bennett, M.D., Ph.D., and Samuel Jacobson, M.D., Ph.D., both of whom are principal investigators for Leber congenital amaurosis gene therapy clinical trials.

Despite the success of our CDA program in recruiting clinical talent into our field, we still need many more clinician researchers to meet the diagnostic needs of patients with inherited retinal diseases in the United States and around the world. We have, therefore, made it a goal in our strategic plan to increase funding for our CDA program. Hopefully, as we grow our revenues in the coming years, we can better address the diagnostic challenge.

7 Responses to 'Making Accurate Diagnoses Possible'

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  4. sharam says:

    helo i am have rod con dystrophy plz help
    send last research

    • EyeOnTheCure says:

      The term, rod-cone dystrophy is used as an ‘umbrella term’ to imply retinal defects that impact primarily rod cells, with cone cells spared, at least until later stages of the disease. It can be used to generically define any retinal degenerative disease that exhibits this condition. Retinitis Pigmentosa is considered a rod cone dystrophy, as is Leber Congenital Amaurosis and Usher syndrome. Note that rod-cone dystrophy is a different disease entity than Cone-Rod Dystrophy. Currently over 50 genes have been shown to be involved in RP. To obtain a more accurate diagnosis, you may be want to consider genetic testing. Here is the web link to download an informative document on genetic testing:

      You should also consider participating in FFB’s “My Retina Tracker”, a free registry that can help you find out about clinical trials that are recruiting for your specific disease. For more information on “My Retina Tracker” please see the following web link:

  5. Samiha says:

    Hi I have 2 kids (a girl that’s 12 and a boy that is 10) they booth have cone rod dystrophy. Plz if their is any new information plz let me no.

    • EyeOnTheCure says:

      Approximately 50% of all cone-rod dystrophy are caused by mutations in the ABCA4 gene, the same gene that is involved in Stargardt’s disease. If your children have this gene mutation, then they could qualify for the ABCA4 gene therapy trial that is currently recruiting patients in Portland, Oregon and Paris, France. It should only take a month or two to find out if the ABCA4 gene is involved. If ABCA4 is not involved, then it could take months to years as many of the remaining 50% of recessive cone-rod dystrophy genes are unknown. For information on genetic testing, please see the following web link to download a PDF document:
      You should also consider having your children participate in FFB’s “My Retina Tracker”, a free registry that can help you find out about clinical trials that are recruiting. For more information on “My Retina Tracker” please see the following web link:

      Periodically, you may want to take a look at 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.

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