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

But I wanted to highlight a particular effort that addresses an important need in gene therapy for retinal degenerations: Delivering large corrective genes to cells in the retina.

For those of you who’ve seen the original “Jaws,” the summer blockbuster movie of 1975 about a killer shark terrorizing beachgoers, you may remember one dramatic scene. After he sees the enormous shark up close for the first time, Police Chief Brody, played by Roy Scheider, declares, “We’re gonna need a bigger boat.”

That’s the kind of situation we find ourselves in with diseases like Usher syndrome 2A (USH2A), LCA caused by defects in the CEP290 gene and RP caused by defects in EYS. We need a “bigger boat” to deliver healthy versions of these and other large genes to the retina. While current viral gene delivery systems, such as adeno-associated viruses and lentiviruses, are working well in clinical trials for retinal disease, they aren’t able to carry very large genes.

That’s where the nanoparticle-based gene therapy research being conducted by Dr. Muna Naash at Oklahoma University Health Sciences Center comes in. Nanoparticles are like tiny manmade rocks that are 1/12,000th the diameter of a human hair. Scientists can wrap just about any sized gene in them. Dr. Naash has shown that nanoparticles, with their therapeutic genetic cargo, are readily absorbed by retinal cells after being injected into the eye.

As part of this latest round of funding, we are supporting her development of a treatment for USH2A, but Dr. Nash’s emerging technology could be used to deliver large corrective genes for a variety of retinal diseases. So, we are excited about the potential for her treatment to help a lot of people.

Now, if you happen to be going to the beach soon, remember to wear sunglasses, sunscreen and a wide-brimmed hat – to protect your skin and your eyes. While they make for fun cinema, shark attacks are the least of your beachgoing worries, especially if “swimming” means you only go up to your ankles, like me.

Illustrated above: nanoparticles (courtesy of the National Institutes of Health)

Such is the case with The Wall Street Journal, which, among other FFB associates, quotes our chief research officer, Dr. Steve Rose, in this article, focusing specifically on Stargardt disease. It’s accompanied by a blog post that gives a shout-out to Eye on the Cure while confirming the Foundation’s position as a leader in research-funding efforts.

It’s also worth noting that the WSJ article includes mention of a gene therapy developed, and being tested in a clinical trial, by the British company Oxford BioMedica. Known as StarGen, it’s one of a few of the company’s treatments-in-development that FFB has had a hand in funding. That includes a gene therapy for Usher syndrome which is undergoing a clinical trial in both the United States and France.

Thank you, Wall Street Journal, for getting the word out! Otherwise, visitors to Eye on the Cure can rely on our continual reports on research developments for various retinal diseases.

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.

One of the key benefits of iPSC is that, like embryonic stem cells, they can become any type of cell in the body, and be easily replicated to make large quantities of cells for therapeutic purposes. However, because the donor is the source of the transplanted cells, there is less chance of rejection.

Though I don’t know all the details of the study, the RIKEN treatment sounds similar, in some respects, to the treatment developed by Advanced Cell Technology (ACT) now in clinical studies for dry AMD and Stargardt disease. While each group’s approach involves transplanting retinal pigment epithelial (RPE) cells into patients’ retinas, RIKEN will derive its treatment from iPSC. ACT, on the other hand, develops RPE cells from embryonic stem cells.

Though we currently have more research experience with embryonic stem cells, iPSC offers the important advantages I just mentioned. And there’s nothing like a clinical trial to see how well they might really work.

The Foundation funds both iPSC and embryonic stem cell research because we don’t know which option will be best. It may be the case that both alternatives will have their own unique advantages in different diseases or stages of degeneration.

Pictured above: Rod cells derived from iPSC at the RIKEN labs.