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

Up through the age of 7, as The New York Times pointed out, Corey Haas, a New York state resident, was living virtually blind. A rare disease called Leber congenital amaurosis (LCA) had rendered him legally blind at birth, and he had since been forced to use a cane and learn to read Braille. Although he was attending his local school, where he received special-needs assistance, he wasn’t able to do what many boys that age can – play sports, ride a bike or see the blackboard.

But just after his 8^th birthday – as part of a clinical, or human, trial taking place worldwide – Corey was given a gene therapy treatment in one eye that, over the next year, would improve his vision significantly. By the age of 9, he was navigating a once-impassible obstacle course, reading large-print books and playing Little League baseball. His parents, Nancy and Ethan, were understandably overjoyed, as previously they’d watched Corey’s eyesight steadily degenerate.

The clinical trial, conducted in part by Dr. Jean Bennett at The Children’s Hospital of Philadelphia, is funded by the Foundation Fighting Blindness. It, along with similar trials for LCA gene therapy, is ongoing, as it takes a few stages, over as many years, to prove that a treatment is both safe and effective. The latest good news, which Bill Schmidt included in his post, is that treatments of the participant’s second eyes, including Corey’s, have been successful thus far.

Over the last four decades, FFB has raised more than $500 million, and Corey’s story serves as a case study for what we are working so hard to accomplish – curing blindness. With this particular form of LCA, as with many diseases, the Foundation has been involved in every step of the process.

FFB funding enabled researchers to find the genetic defect causing the condition and conduct the pre-clinical work necessary to better understand the disease and develop a potential treatment deemed safe enough to administer to humans. Foundation funding was then used to execute clinical trials which have restored vision and improved the lives of Corey and roughly 40 other people affected by that specific form of LCA.

But tens of millions more – people with diseases like retinitis pigmentosa, Stargardt disease, Usher syndrome and age-related macular degeneration – are also seeking treatments.. Gene therapy clinical trials are either underway or on the horizon for each of these diseases and more, which is why the Foundation is asking people like you to donate to our “Light the Way to a Cure” holiday fundraising campaign. No donation is too small or large, and each supports our efforts to end blindness for those with retinal diseases.

Donate to FFB’s “Light the Way to a Cure” Campaign:

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.

Tel Aviv, Israel

Now that I’m back from my trip to Israel, I wanted to offer a couple more posts about my visit, the first covering a fascinating research conference in Tel Aviv.

While attending the Israeli meeting of the Association Research in Vision and Ophthalmology (ARVO), FFB Board member David Brint and I were immediately impressed by Israel’s cutting-edge genetic research. Scientists there are searching for a number of inherited retinal disease genes using state-of-the-art screening technologies and techniques. And the genes they’re after not only affect Israelis, Palestinians and others in the Middle East, but also people in the U.S. and around the world.

We were particularly impressed with Dr. Tamar Ben-Yosef, a knowledgeable and insightful young woman, whose laboratory at Technion University is on the hunt for genetic defects that cause retinitis pigmentosa (RP) and Usher syndrome. She is also working with newly identified RP genes — including MAK and DHDDS — to understand how defects in them cause vision loss. That information will be critical to the development of sight-saving treatments and cures.

Dr. Ben-Yosef told us about her challenging work in understanding an unusual form of RP that causes severe cone degeneration. (RP usually affects both types of photoreceptors, rods and cones, but rods more severely, at least initially.) What’s also unusual is that the disease-causing genetic mutation is found in multiple retinal cell types, including photoreceptors and ganglion cells.

David and I also saw presentations and posters from our good friend Dr. Dror Sharon, an FFB-funded researcher from Hadassah Medical Center, who is studying a number of genes, including CRB1, which is linked to about 10 percent of all Leber congenital amaurosis (LCA) cases in Israelis and Palestinians. In addition to previously discovering the RP gene FAM161A, he continues to investigate the way its affect on rods is different from its impact on cones. That work will ultimately lead to targets for treatments.

Lest anyone think that Hadassah and Technion have a lock on the genetics research in Israel, there were reports on LCA, Usher, different forms of RP (dominant and recessive) and achromatopsia (day blindness) from the Rabin Medical Center, Assaf Harofeh Medical Center, Edith Wolfson Medical Center, Tel Aviv University and Hebrew University School of Veterinary Medicine in Rehovot.

We also learned that age-related macular degeneration (AMD) affects individuals in Israel just like people elsewhere in the developed world, and, as a result, there’s a lot of research into the causes (genetic and non-genetic) and potential treatments. One particularly interesting finding from Dr. Itay Chowers’ group at Hadassah is that one of the primary genetic changes that increases dry AMD risk is found at a higher frequency in the Arabic population than in the Jewish population.

I must say, while the Israeli ARVO wasn’t quite the size of the annual ARVO  conference in the States, the quality of the research was outstanding. In addition to the great genetics work, the science community is also doing outstanding stem cell research, some of which I reported on in my previous post.

Before arriving at the conference, I was concerned about the potential language barrier. I knew that most of the talks were in Hebrew. But, fortunately, the slides and posters were in English. So, while my Hebrew (and David’s) is very rusty, I was able to understand the science, which was some of the best I’ve seen.

Photo courtesy of travelmania.com 

The Wailing Wall, Israel

So, my prayers were answered. As I mentioned in my last post, my luggage did not arrive with me in Israel, but, as the airlines promised, it did a day later, so I haven’t had to keep wearing the same clothes. Thank goodness.

Before heading off to Jerusalem, on Wednesday, to meet with FFB-funded retinal researchers and clinicians, my first stop with FFB board member and traveling mate David Brint was the Western Wall, located in the Old City in Jerusalem. Sometimes called the Wailing Wall, it is a foundation wall of the Second Temple and the closest point to a location that many Jews believe is the holiest place on earth. Constructed around 19 BCE by Herod the Great, the Temple was an architectural marvel, and the walls that remain after its destruction clearly show the wisdom and craft of those who built it. Being there, an experience I’d looked forward to for years, was very moving.

David and I then met with several researchers at the Hebrew University of Jerusalem of the Hadassah Medical Center, including FFB-supported Drs. Eyal Banin (our host), Benjamin “Benny” Reubinoff, Dror Sharon, as well as Dr. Itay Chowers. We learned about Benny and Eyal’s efforts to make retinal pigment epithelial (RPE) cells from stem cells under conditions that are as “pure” as possible for eventual use as a transplantation treatment in human clinical trials for age-related macular degeneration (AMD) and Stargardt disease. RPE cells play an essential, supportive role in the retina, but are damaged significantly in people with those diseases.

Dr. Eyal Banin, FFB Board Director Mr. David Brint, Dr. Steve Rose, Dr. Dror Sharon, and Dr. Itay Chowers

In addition, Dror — a geneticist dedicated to finding and understanding the genes that cause inherited retinal degenerations in the diverse populations of the Middle East — has made outstanding progress in locating culprit genes and determining why they cause vision loss. In particular, his laboratory has been responsible for finding a significant number of retinitis pigmentosa and Leber congenital amaurosis genes. Because his lab has an enormous number of DNA samples from affected individuals and their families, he will undoubtedly find more genes and targets for potential treatments.

We also met with Dr. Amir Amedi, who is pioneering research to reprogram the visual cortex, the part of the brain that processes signals from the retina, to recognize hearing signals as “vision.” He demonstrated his team’s impressive progress, and I was amazed to learn how the brain can be trained to recognize different tones (their pitch, length, and duration) and interpret them as letters and even faces. What was also amazing was his evidence that the visual cortex can be rehabilitated well after individuals lose their sight. This is critical as the Foundation helps develop treatments that restore vision to people who’ve been blind most of their lives.

Dr. Amedi also demonstrated a new high-tech cane which, by processing tones and vibrations, lets the user know what is ahead and to the sides. It also indicates changes in depth – for example, when a person reaches a curb and needs to step down. Dr. Amedi’s team is paving the way for a new type of mobility for individuals who don’t even have light perception.

All in all, David and I were extremely impressed with the caliber and depth of the research being conducted at Hadassah, and are proud that FFB can contribute to these outstanding efforts.

As I headed back to the hotel, I reflected on the remarkable juxtaposition of history and innovation that we encountered in Jerusalem. It’s an indelible and moving memory.