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The doctors and staff at the Lehigh Valley Center for Sight are totally committed to providing complete eye care, unsurpassed customer service & the most advanced technology to meet all the needs of our patients.

Vision Improvements Reported in ProQR’s Clinical Trial for LCA10 Treatment


ProQR, a biotech company in the Netherlands, has reported vision improvements for patients in a Phase 1/2 clinical trial for QR-110, a therapy for people with Leber congenital amaurosis 10 (LCA10), which is caused by the p.Cys998X mutation in the CEP290 gene. The mutation is estimated to affect about 2,000 people in the Western world.

The company reported that 60 percent of subjects in the trial demonstrated improvements in visual acuity and their ability to navigate a mobility course. The treatment was also safe for patients.

As a result of the encouraging interim results, ProQR has concluded the Phase 1/2 trial and plans to move the treatment into a Phase 2/3 clinical trial. Ten people were treated in the Phase 1/2 study.

Results from the interim analysis were presented on September 5, 2018, at the Retinal Degeneration 2018 meeting in Killarney, Ireland, by principal investigator Artur Cideciyan, PhD, research professor of ophthalmology at the Scheie Eye Institute, University of Pennsylvania.

The Foundation Fighting Blindness has entered into a partnership with ProQR to develop a retinal therapy for people with Usher syndrome type 2A (USH2A) caused by mutations in exon 13 of the USH2A gene. FFB will be investing up to $7.5 million in milestone-based funding to advance the treatment, known as QR-421a.

“The results from ProQR’s trial are great news for people with LCA10. Furthermore, the safety and vision improvements observed in the study provide strong evidence that antisense oligonucleotides, ProQR’s treatment approach, are an effective way to save and restore the vision of people with retinal diseases,” says Ben Yerxa, PhD, chief executive officer at FFB. “ProQR’s results for QR-110 are groundbreaking, because it is the first time this treatment approach has improved vision in humans with retinal disease.”

ProQR’s LCA10 therapy is an antisense oligonucleotide (AON), which works like “genetic tape” to repair the mutation. Unlike gene replacement therapies in which copies of whole genes are delivered to replace defective copies, AONs correct the mutation in the patient’s messenger RNA, which conveys genetic information for protein production. AONs can be advantageous when large retinal-disease genes — such as CEP290 or USH2A — exceed the capacity of viral gene-replacement delivery systems.

Patients in the LCA10 Phase 1/2 trial are receiving four intravitreal injections of QR-110 into one eye—one injection every three months. The trial is being conducted at three centers: the University of Iowa, Iowa City, Iowa; the Scheie Eye Institute at the University of Pennsylvania, Philadelphia; and the Ghent University Hospital, Ghent, Belgium.

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FFB Congratulates RPE65 Gene Therapy Researchers for Champalimaud Award

More than two decades ago, the Foundation Fighting Blindness (FFB) began funding RPE65 gene therapy research that led in late 2017 to LUXTURNA™, the first FDA-approved gene therapy for the eye or an inherited condition. Ultimately, the Foundation provided more than $10 million in funding for the groundbreaking effort.

On September 4, 2018, seven researchers, including six previously funded by the Foundation, were recognized with the prestigious 2018 Antonio Champalimaud Vision Award for their contributions to the advancement of blindness-reversing RPE65 gene therapies. The investigators received a prize of one million euros ($1.15 million).

Mutations in the RPE65 gene cause Leber congenital amaurosis and retinitis pigmentosa, both of which lead to devastating, progressive vision loss.

The awardees included:

  • Jean Bennett, MD, PhD, Scheie Eye Institute, University of Pennsylvania School of Medicine, and Albert M. Maguire, MD, Children’s Hospital of Philadelphia. Their RPE65 gene-therapy research and human studies led to the development of LUXTURNA™.
  • Robin Ali, PhD, and James Bainbridge,MD, PhD, Institute of Ophthalmology of the University College London and Moorfields Eye Hospital, who led an RPE65 gene therapy clinical trial.
  • Samuel G. Jacobson, MD, PhD, Scheie Eye Institute, University of Pennsylvania School of Medicine, and William W. Hauswirth, PhD, University of Florida College of Medicine, who conducted extensive RPE65 gene therapy research and development, and ultimately, a clinical study.
  • Michael Redmond, PhD, National Eye Institute, who identified the role of the RPE65 gene in vitamin A processing in the retina.

“We congratulate the Champalimaud Award recipients for their groundbreaking advancements in gene therapy research, and the impact their breakthroughs in retinal-disease gene-therapy development,” says Stephen Rose, PhD, FFB’s chief scientific officer. “Thanks in part to their success, people with LCA or RP caused by biallelic mutations in the RPE65 gene could be eligible to receive this FDA-approved vision-restoring treatment. In addition, this advancement has led the way for development of many more retinal gene therapies. There are now approximately 20 clinical trials underway for retinal gene therapies including those for Stargardt disease, Usher syndrome, and retinitis pigmentosa.”

The António Champalimaud Vision Award is given alternately between contributions to overall vision research (even numbered years) and contributions to the alleviation of visual problems, primarily in developing countries (odd numbered years).

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September is Healthy Aging Month

september-is-healthy-aging-month.jpgToday, people are living longer than ever before so it’s important to be proactive and take responsibility for your health as you age.

Like any other organ in your body, your eyes do not stay the same as you get older. Vision changes are normal with age but vision loss and blindness is not.  Older adults are at higher risk for certain eye diseases and conditions, including age-related macular degeneration, cataract, diabetic retinopathy, glaucoma, dry eye, and low vision.  To continue to enjoy healthy vision as you advance in years, it’s important to have a comprehensive dilated eye examination with an ophthalmologist on a regular basis.

Here are some other tips to maintain healthy vision now and as you age:


  • Eat a healthy, balanced diet. Fruits and vegetables can help keep your eyes healthy. Visit our website for healthy eye recipes, click here Eye Cook.
  • september-is-healthy-aging-month-2.jpgMaintain a healthy weight. Being overweight increases your risk for diabetes. By exercising regularly, you can help prevent vision loss.
  • september-is-healthy-aging-month-3.jpgDon’t smoke. Smoking increases your risk for age-related macular degeneration, cataract, and other eye diseases and conditions that can damage the optic nerve.
  • september-is-healthy-aging-month-4.jpgWear protective eyewear when outdoors. Protecting your eyes from the sun’s ultraviolet rays when you are outdoors is vital for your eye health.  Wearing sunglasses that block 99 to 100 percent of both UV-A and UV-B radiation.
  • september-is-healthy-aging-month-5.jpgKnow your family history.  Talk to your family members about their eye health history. It’s important to know if anyone has been diagnosed with a disease or condition since many are hereditary. This will help determine if you are at higher risk for developing an eye disease or condition.
  • september-is-healthy-aging-month-6.jpgConsider a multivitamin. Vitamins A (beta-carotene), C, E and the mineral zinc have been shown to promote eye health.  A vitamin called Preservision has been known to help patients with moderate to severe age-related macular degeneration.
  • september-is-healthy-aging-month-7.jpgGive your eyes a rest.  If you spend a lot of time at the computer or focusing at any one distance, you sometimes forget to blink, resulting in dryness and eye fatigue. Every 20 minutes, look away about 20 feet in front of you for 20 seconds. This can help reduce eyestrain.

You can’t stop time, but you can take care of your eyes so that they remain healthy as you age. Having a healthy vision can be possible at any age!

Ophthotech is Advancing an Impressive Portfolio of Cutting-Edge Therapies for Retinal Diseases

Audio version:

Ophthotech is a biopharmaceutical company committed to developing therapeutics and gene therapy solutions to treat retinal diseases. The company is aggressively pursuing therapies for orphan conditions like retinitis pigmentosa (RP), Stargardt disease, and Leber congenital amaurosis (LCA), as well as common indications such as wet and dry age-related macular degeneration (AMD).

Most impressive, the company is taking on a multi-track strategy that includes retinal gene-therapy development, including delivery of over-sized genes and design of a two-step process of gene knockdown and replacement for autosomal dominant conditions.

While these are the scientific challenges that keep most retinal researchers awake at night, Ophthotech thrives on them and sees them as opportunities to meet significant unmet medical needs for people with retinal diseases.

Kourous Rezaei, MD, the company’s chief medical officer, says his team’s clinical and drug-development expertise, as well as its strategy of scientific collaboration, enables Ophthotech to break through these formidable technical barriers.

“One point that differentiates us from other companies in this space is that retina specialists are part of our management team,” says Dr. Rezaei. “When retina specialists are directly involved in the process of drug development, they provide an additional perspective on a number of challenges, including the design of the clinical trial. We believe this gives Ophthotech a strategic advantage.”

Dr. Rezaei himself is a practicing retinal specialist at Illinois Retina Associates, and an associate professor in ophthalmology at Rush University Medical Center.

“Ophthotech is currently collaborating with scientists to develop novel gene delivery technology that uses adeno-associated viruses (AAVs),” adds Dr. Rezaei. “The safety profile of AAVs in humans is relatively well-documented compared to other gene therapy technologies currently in development. We are particularly interested in AAV-based delivery systems that can be modulated to target specific retinal cells.”

AAVs are engineered by scientists to deliver therapeutic genes into patients’ cells, including those of the retina. Nearly 20 clinical trials for AAV-based retinal therapies are underway.  LUXTURNA™, which uses an AAV for retinal delivery of the gene RPE65, became the first FDA-approved gene therapy for the eye or an inherited disease in December 2017. However, the AAV technology used in LUXTURNA™ is now more than a decade old.

Dr. Rezaei continues, “The potential to achieve an extended treatment effect and possibly a cure through a single gene therapy administration is particularly appealing to patients who do not have any treatment options available to them, as well as to patients with age-related retinal diseases who may require chronic therapy over years, if not decades.”

Ophthotech is gaining access to emerging, cutting-edge AAV treatments through academic partnerships. It is collaborating with scientists at the University of Florida and University of Pennsylvania to advance a gene knockdown and replacement therapy for patients with autosomal dominant retinitis pigmentosa (adRP) caused by mutations in the gene rhodopsin (RHO). Earlier research for this program was funded by the Foundation Fighting Blindness.  A recent paper in the journal Proceedings of the National Academy of Sciences highlights the success of the Florida-Penn team in canine studies of the RHO gene therapy. The company is planning to launch a clinical trial for RHO gene therapy in 2020.

Ophthotech also recently formed a partnership with the University of Massachusetts Medical School for developing gene therapies that deliver smaller versions of the genes for CEP290 (for LCA) and ABCA4 (for Stargardt disease) ¾ genes that are otherwise too large for existing AAV delivery systems.

“Our expertise is clinical development and its timely execution,” says Dr. Rezaei “Our strategy is to collaborate with universities and companies who have very strong science, and use that science with our clinical expertise to develop novel therapies.  Our team has significant ophthalmic drug development experience and deep relationships with global ophthalmology thought leaders. We have an extensive network of clinical trial sites in ophthalmology, having worked with over 250 sites worldwide.”

Ophthotech also has other clinical trials underway for Zimura®, the company’s product candidate that is designed to target and inhibit complement factor C5. While the complement system plays a critical role in fighting off infection and pathogens, it is implicated in accelerating the progression of certain retinal diseases when not properly modulated. The company’s Zimura clinical trials for people with Stargardt disease, as well as dry and wet forms of AMD are all in Phase II.

The Foundation Fighting Blindness has been a valuable resource for the Zimura clinical trial for Stargardt disease by providing access to natural history data from its ProgStar study, and patient information from, the Foundation’s global patient registry. If you or someone you know are interested in participating in this clinical trial evaluating Zimura for the potential treatment of Stargardt disease, please call 1-833-STGD1-OP (833-784-3167). Information on all Zimura clinical trials can be found at

“When we design a clinical trial, we need to know the natural history of the disease, the patients who could potentially be helped the most, and the optimal endpoints for the trial to determine if a treatment is working. These factors may ultimately determine the success of the clinical trial,” says Dr. Rezaei. “With ProgStar, the largest natural history study ever done in patients with Stargardt disease, we were able to use the study results to help design our clinical trial. If the Foundation had not been there, it would have been more difficult, and may not have even been feasible, to design our trial.”

FFB Funding More than $2 Million in New Research

ffb-funding-more-than-2-million-in-new-research.pngThe Foundation Fighting Blindness has announced funding for seven new research projects to advance the development of treatments and cures for retinal degenerative diseases. Each project will receive a total of $300,000 over a three-year period.

The grants were selected through FFB’s annual call for research proposals from individual investigators. Seventy scientists submitted requests for funding. Applications were reviewed by FFB’s Scientific Advisory Board, which is comprised of the world’s leading retinal experts.

“Many of the funded research projects are cross-cutting, meaning they have the potential to benefit a broad range of people, independent of the mutated genes causing their retinal diseases,” says Stephen Rose, PhD, FFB’s chief scientific officer. “Also, some projects address a critical gap in our understanding and modeling of disease, and have potential to move the field forward in a significant way.”

Here are summaries of the seven new projects:

Gene Therapy to Preserve Vision by Protecting Cones
Daniel Lipinski, PhD, Medical College of Wisconsin
Dr. Lipinski is developing a gene therapy to prevent the degradation of proteins that leads to the death of cones, the photoreceptors that provide central vision, vision in lighted conditions, and the ability to read and drive. Such a treatment has the potential to help people with retinitis pigmentosa, Leber congenital amaurosis, and Usher syndrome by working independent of the patient’s gene mutation.

Designing Optimal Viral Gene-Delivery Systems for Retinal Diseases
Leah Byrne, PhD, University of Pittsburgh
Scientists engineer viruses to deliver therapeutic genes to the retina. The optimal design of a given gene therapy delivery system depends on the type of retinal cell that needs to be treated. Designing a delivery system includes choosing the right promoter (i.e., the gas pedal for the gene) and the right capsid (i.e., the container for the gene). Dr. Byrne is creating a toolbox of efficient and specific viral capsids and promoters for every retinal cell type, and make it available to the research community, thereby enhancing and expediting gene-therapy development for retinal diseases.

An Optogenetic Therapy with Improved Light Sensitivity
John Flannery, PhD, University of California, Berkeley
Optogenetic therapies bestow light-sensitivity (visual function) to surviving retinal cells after photoreceptors are lost to advanced retinal diseases such as retinitis pigmentosa, Usher syndrome, and age-related macular degeneration. However, many current optogenetic therapies in development have limited light sensitivity and will only work in very bright settings. Dr. Flannery’s team is developing optogenetic approaches that will work in a broader spectrum of lighting conditions and potentially provide better perception of details than other optogenetic alternatives in clinical trials.

Inhibiting Immune Response to Transplanted RPE Cells
Trevor McGill, PhD, Oregon Health & Science University
One concern with retinal cell transplantation is a harmful immune response to the newly introduced cells. Retina microglia are first-responder immune system cells that help the retina to recognize and fight foreign substances.  While this is a normal biological defense mechanism, this response can adversely affect the transplantation of healthy cells into the retina.  Dr. McGill is investigating drugs that can inhibit microglia when retinal pigment epithelial cells (RPE) are transplanted to treat retinal conditions such as age-related macular degeneration and Stargardt disease.

VLC-PUFA Therapeutics for Dry AMD and Dominant Stargardt Disease
Paul Bernstein, MD, PhD, University of Utah
Very long-chain polyunsaturated fatty acids (VLC-PUFAs) are non-dietary fats that are uniquely found in the retina and just a few other tissues in the human body. They are believed to be essential for the maintenance of photoreceptors. Mutations in the gene ELOVL4 lead to depletion of VLC-PUFAs and autosomal dominant Stargardt disease. Dr. Bernstein is working with lipid chemistry specialists at the University of Utah to develop potential VLC-PUFAs treatments to be tested in the lab. Earlier studies suggest that VLC-PUFAs may also be beneficial to people with dry age-related macular degeneration.

Identifying Genetic Modifiers that Affect Severity of Stargardt Disease
Frans Cremers, PhD, Radboud University Medical Center, Netherlands
Autosomal recessive Stargardt disease is most often caused by mutations in the gene ABCA4. However, the severity of vision loss varies widely in patients, even between siblings with the same mutations in the same family. Researchers believe there are other genetic modifiers that impact disease severity. Dr. Cremers and his team are genetically analyzing Stargardt disease in families and sibling pairs to identify potential modifier genes, which may also be targets for vision-preserving therapies.

Large Animal Model Development for Usher Syndrome 1B
Martha Neuringer, PhD, Oregon Health & Science University
Animal models for Usher syndrome have been of limited use, because they don’t exhibit vision loss (only exhibit hearing loss). Dr. Neuringer and her colleagues are using the gene-editing technique CRISPR/Cas9 to develop a large animal model of Usher type 1B, which is caused by mutations in the gene MYO7A.  She believes that these animals will exhibit vision loss and will therefore be useful for testing potential Usher 1B therapies.

Eye Safety Tips for the Solar Eclipse

A Second Vision

a-second-vision.jpgKristin McDonald
For the last few years Kristin McDonald, a former actress and television spokeswoman, has been applying her make-up without the aid of her eyes due to retinitis pigmentosa, a condition that reduces a person’s peripheral vision until all that is left is a pinpoint of sight.

Today, she is in a first stage study that is offering her and others hope that the injection of stem cells might be the mechanism that could slow, and maybe even halt the effects of this horrible disease. Discovery Eye Foundation helped support many of the preliminary translational studies necessary to bring the clinical trial to the FDA and get this exciting, novel approach to the patients.

I am Tom Sullivan, Ambassador of Vision for the Discovery Eye Foundation, and I was rocked when my phone rang recently and I heard the sound of my friend Kristin crying.

“What’s the matter?” I asked with real concern.

Her tears were quickly replaced by laughter, joyous laughter.

“It might be working,” she said, “I mean, the cells just might be having an impact.”

“Meaning your feeling change in your vision?” I asked.

“Tom,” she went on, “you won’t believe it. This morning when I was getting dressed and putting on my make-up, I saw my mascara in the mirror. Listen, I am not trying to tell you I can see, but since the cells were injected, I can focus on a light and even begin to notice shadows.”

“And, now,” she laughed again, “maybe I can put my mascara on straight!”

Kristin has no illusions about how far the injection of cells will take her; but, she is encouraged, as are many of the other patients who are part of Dr. Henry Klassen’s clinical study helped by DEF’s early stage funding.  Maybe the old phrase really does apply – you probably know the one I mean – “hope springs eternal in the human breast.” That goes for the researchers, the patients, and all of us who treasure the gift of sight.

To read more about Kristin McDonald, visit her website at


Tom Sullivan
DEF’s Ambassador of Vision