So why can diagnoses be tough to come by? First and foremost, most eye doctors don’t see many patients affected by inherited retinal diseases, because the conditions are rare. They simply don’t have familiarity with them, even if they learned about them in medical school and during their residency training.

Another major reason diagnoses are tough is that some conditions can look the same to even a well-trained retinal specialist. For example, cone-rod dystrophy affects the macula, the central region of the retina, much in the same way that Stargardt disease does. X-linked retinitis pigmentosa (XLRP) and choroideremia can look similar in appearance. Sometimes it isn’t clear upon examination whether a young child has retinitis pigmentosa or a form of Leber congenital amaurosis.

Also, diseases don’t always behave the way experts expect them to. XLRP is a great example of this phenomenon. According to textbooks, XLRP only affects men; females are unaffected carriers. But in recent years, researchers have found that a surprising number of women have vision loss, sometimes severe, from XLRP.

Despite these challenges, there are things you can do to improve your chances of getting an accurate diagnosis:

Visit a Clinician at a Retinal Research Center
Academic research institutions are where most experts in inherited retinal diseases practice, and FFB funds many of them. Known as “clinician-researchers,” they have the most knowledge and the best tools to make diagnoses.

These centers are located in many major cities in the United States, Europe and Asia. While it can be financially and logistically difficult for some patients to visit these centers regularly, even one visit can make a world of difference in understanding a disease.

Contact the Foundation at 1-800-683-5555 or info@FightBlindness.org to find the research center most convenient for you. We also maintain a list of privately practicing retinal doctors who are knowledgeable about inherited retinal degenerations.

Get Genetically Tested
Finding the disease-causing gene is the key to making a definitive diagnosis. If you find the genetic defect, you have the answer. Furthermore, finding the gene can position you for clinical trials of emerging treatments.

Of course, the genetic-testing process can be a real bear. That’s because only about 45 percent of the genes that cause these diseases are known, and the discovery of new genes is a research effort that can take many years. It isn’t like getting your cholesterol checked at your local doctor’s office or lab — you won’t get an answer right away, and sometimes you won’t get an answer for years until the gene is identified during research.

Also, it is best to contact a specific research center, and potentially its genetic counselor, to get a genetic test. The Foundation has online genetic testing resources, and the company InformedDNA offers fee-based, genetic counseling services over the phone for people with inherited retinal diseases.

Be Persistent and Tenacious
I can’t say enough how important it is to advocate for one’s self in getting answers to questions about a diagnosis or genetic test results. While people might not always get the answers they want — e.g., “We can’t find your gene” — they should get an answer. At the end of the day, they must make the follow-up calls to get the information to better understand a condition and how to deal with it.

For those who do jump through all these hoops and can’t get a definite diagnosis, there is good news. The Foundation funds several emerging treatments — including drugs, gene therapies and stem cell treatments — that are designed to work for people with a wide range of diagnoses.

Many of these potential therapies are funded through our Translational Research Acceleration Program and positioned to move into human studies within the next few years.

Finally, the Foundation is funding a number of outstanding researchers, who, thanks to advancing technology, are continually improving their ability to find disease-causing genes and make diagnoses.

Clearly, there continue to be formidable challenges for doctors, researchers and patients, but we are getting more answers to inherited retinal diseases every day.

Photo: Courtesy of National Eye Institute

Every year, Cantor honors the more than 600 employees it lost in the terrorist attacks by donating all commissions made from trades on September 11 to more than 100 charities—including, this year, the Foundation.

April closes a deal with help from a Cantor trader on Charity Day. Revenues earned from trades on September 11 were donated to various charities, including the Foundation. (Photo courtesy of Getty Images.)

This past year, I was crowned Mrs. World, and before that Mrs. America. Although I’d participated in beauty pageants in my twenties, when I was single, I re-entered the competition as a wife and mother a few years ago with two goals in mind: 1) raise awareness about retinal diseases; and 2) help the Foundation raise funds for research that will treat and, one day, cure them.

I have a mild case of retinitis pigmentosa, or RP, which limits my vision. And my two children—Brandon, 13, and Savannah, 8—are also impacted by the disease. Even with corrective lenses, they have trouble seeing at night, and their peripheral vision is affected. Earning the titles of Mrs. America and Mrs. World helped me become a spokesperson for the Foundation, which is focused on improving the lives of my children and more than 10 million other Americans affected by retinal diseases.

Charity Day—a big success, raising more than $12 million between Cantor Fitzgerald and its affiliate, BGC Partners—was the first of a string of events I’ll attend for the Foundation this fall. In particular, I’m really excited about October, because it’s been set aside by the Foundation as Save Your Vision Month.

All 31 days will be dedicated to uniting and empowering the retinal disease community, largely through social-media activity. For details, you can visit this web page, to find out how to help us educate, engage and inspire people across the nation.

April and Mrs. New York, Leah Bartos, flank actor Steve Buscemi, a fellow celebrity ambassador, at Cantor Fitzgerald.

It’s only fitting that I began the fall season with Charity Day. It was a lot of fun, and the folks at Cantor treated all of us as if we were all A-list celebrities. But as I watched the traders working hard, and donating their earnings to charities, I couldn’t help but think of the Foundation itself. Cantor has taken what was a truly tragic day and turned it into an event that will benefit the less fortunate for decades to come. It reminded me just how resilient and powerful people can be.

The same can be said for the Foundation. In 40 years, it’s raised half a billion dollars for cutting-edge research which, right now, is being tested in clinical trials for treatments around the world. A lot more work has to be done, but a revolution to save and restore vision is truly underway. With my children always in my thoughts, I can’t think of a better cause to get behind.

Pictured, top of page: Mrs. World, April Lufriu, poses with Michael J. Fox at Cantor Fitzgerald on Charity Day. Fox was there representing the Michael J. Fox Foundation. 

Now please don’t go hooking up your eyeball to an electrical socket — that would be a bad idea on several levels. And even the well-controlled clinical trial of the approach, known as transcorneal electrical stimulation, is still at an early stage. But Dr. Florian Gekeler, from the University of Tübingen, Germany, reported that early results have been encouraging so far; electrical stimulation has had a positive effect on vision for some people.

The treatment is being developed by the German company Okuvision GmbH. The company is expanding the study to get a better sense of this potential treatment’s safety and efficacy. Overall, I think Dr. Frankenstein (and Boris Karloff) would have been impressed.

All in all, it was a very exciting meeting where interesting and promising research results were presented from around the world. I salute Christina Fasser, president of Retina International and a woman affected by retinitis pigmentosa, for organizing a great meeting.

Pictured above: A transcorneal electrical stimulation device developed by Okuvision GmbH

Well, yet another such miracle cure has come to my attention over the past few days. I have been receiving inquiries about an alleged stem cell “treatment” from a “consultancy group,” MD Stem Cells, which claims to provide access to a stem cell therapy that works for a range of retinal diseases. It also claims that seven people have been successfully treated.

So what is wrong with this picture? Where do I begin? After an exhaustive search, we have been unable to find any published data on clinical research for the treatment offered by MD Stem Cells. Likewise, we have found no description in the scientific literature of how the treatment offered by MD Stem Cells could work or any evidence of its resulting in a positive effect, save for the personal testimony of the seven people who say they have seen success with the treatment (whatever that means).

Perhaps most important, there doesn’t appear to be regulatory oversight for the therapy that we can find anywhere; there’s no FDA authorization for a clinical trial, and there’s no FDA approval making it available to the public. The so-called treatment is being delivered in Europe, and we do not know if any European regulatory agency has seen this protocol.

In other words, the treatment offered by MD Stem Cells is not based on any science or clinical experience we can find published anywhere and, as such, should be avoided.

So how do you know if a treatment is legit? There should be preclinical and clinical trial data published in a peer-reviewed journal on research for the treatment. The company offering a treatment should have references to those publications on its website or mention it in its news release. And, most important, it should have documented FDA or equivalent regulatory agency oversight of its research and treatment.

Also, keep this in mind: The world of retinal degeneration research is finite. The Foundation funds many of the world’s top retinal doctors and researchers, and we have relationships with most of the companies involved in this arena. In other words, we have a broad and deep knowledge of what is happening in the world of research for retinal degenerations.  So, if you have a question about something you’ve heard about an alleged treatment, send it to info@FightBlindness.org, and we’ll get back to you with our thoughts on it.

For the record, there are only two FDA-authorized clinical studies underway of a stem cell treatment for retinal degenerative diseases. Both – one for Stargardt disease, the other for dry age-related macular degeneration – are being conducted by the company Advanced Cell Technology.

• Dr. Matthew Vincent, Director of Corporate Development, Advanced Cell Technology (ACT). His company has clinical trials underway for a stem cell treatment for Stargardt disease and dry age-related macular degeneration.

• Dr. David Wilson, who is leading Oxford BioMedica’s StarGen (gene therapy for Stargardt disease) clinical trial at Oregon Health & Science University

• Dr. David Saperstein, representing QLT, Inc., which is conducting an international clinical trial of a drug for certain forms of retinitis pigmentosa (RP) and Leber congenital amaurosis (RPE65 and LRAT mutations)

Not only will they provide the latest updates on their human studies; they’ll also discuss how therapies will likely be used synergistically in the future.

For example, if you are a person with moderate to advanced RP, the ideal solution might be a gene therapy to halt the disease in your existing retinal cells coupled with stem cells to replace the rods and cones you’ve lost.

Or consider this example: Let’s say you have RP and are taking vitamin A to slow the progress of vision loss and a drug becomes available that also slows vision loss. Does that mean you stop taking vitamin A? Maybe not — it depends on if and how the new treatment and vitamin A can work together. (By the way, Dr. Eliot Berson will talk about vitamin A, lutein, and oily fish at the 3:45 p.m. session on Friday, June 30.)

A third example: We are getting closer to the day when your skin or blood may be your own source of stem cells. That magic is done through a process called inducing pluripotent stem cells, and gene therapy may be used to correct the genetic defect so the cells are disease-free when they are put into your retina.

Of course, combination therapies are a ways off, but this closing session will underscore why it is important to consider multiple treatments and not just one approach to saving your vision. I am sure the discussions will be lively and informative.

So, I hope to see you in Minneapolis. If you’re planning to go, make sure you stick around for the grand finale on Sunday.