LCA13 (RDH12) Gene Therapy Poised to Move into Clinical Trial

Opus Genetics has received authorization from the US Food and Drug Administration (FDA) to launch a Phase 1/2 clinical trial for its emerging gene therapy for people with Leber congenital amaurosis 13 (LCA13) which is caused by mutations in the gene RDH12.

The company plans to enroll 10 people in the trial including adolescents (ages 12-17) and adults (ages 18 and older). The trial will be conducted at three sites: Associated Retina Consultants in Phoenix with Benjamin Bakall, MD, PhD, as principal investigator; University of Pennsylvania in Philadelphia with Tomas Aleman, MD, as principal investigator; and Retina Consultants of Texas & Retina Group, Inc. in Houston with Kenneth Fan, MD, as principal investigator.

Known as OPGx-RDH12, the gene therapy is administered by a one-time injection of a tiny drop of fluid underneath the retina. The treatment uses an engineered adeno-associated virus (AAV), which works like a vast container system, to deliver healthy copies of RDH12 to cells in the retina. RDH12 is involved in clearing toxic byproducts from vitamin A metabolism in the retina. While vitamin A is essential for vision, the toxic vitamin A metabolites cause loss of photoreceptors and vision.

Mutations in RDH12 can cause significant vision loss for young children from LCA13 and early onset retinal degeneration, as well vision loss to adults from retinitis pigmentosa.

The Global RDH12 Alliance has committed up to $1.6 million toward the development of OPGx-RDH12, and is assisting with clinical and regulatory strategy for the program, integrating the perspectives and experiences of patients and families directly into its development. The Alliance includes the nonprofits: Eyes on the Future (UK), RDH12 Fund for Sight (US), and Candle in the Dark (Belgium).

Opus Genetics and the Global RDH12 Alliance are partners of Hope in Focus.

“This is what true co-development looks like,” said Silvia Cerolini, chief executive officer of Eyes on the Future, and mother of a child affected by LCA13. “Our RDH12 patient organizations and Opus have pooled resources, capabilities and risk to bring this rare gene therapy into the clinic, combining venture philanthropy, scientific innovation and a patient-driven sense of urgency. We have been working toward this moment for many years, and we are grateful to Opus for being a true partner. We believe this model can become a blueprint for bringing gene therapies to rare disease communities, and one that other patient organizations can follow.” (Quote taken from an Opus press release.)

No AI was used in the writing of this article.

Hope in Focus Joins the Branford Lions Club for Rare Eye Disease Awareness, Advocacy and Action

On October 7, Hope in Focus joined the Branford Lions Club at Quinnipiac University in Hamden, Connecticut, for “Rare Eye Diseases: Awareness, Advocacy and Action.” Held in collaboration with Quinnipiac University’s Frank H. Netter MD School of Medicine and the Denise D’Ascenzo Foundation, the event brought together local Lions Club members, patient advocacy organizations, medical students, healthcare professionals, patients, and caregivers to discuss rare eye diseases and their impact on individuals and families.

Image of a slide from PowerPoint presentation displayed by the Branford Lions Club — Rare Eye Disease presentation by the Branford Lions Club

The meeting focused on raising awareness of rare eye diseases, exploring the challenges faced by those affected, and identifying opportunities for the Lions to support meaningful education, advocacy, and community engagement.

As part of Hope in Focus’ mission to advance the development of treatments for blindness caused by Leber congenital amaurosis (LCA) and other rare inherited retinal diseases (IRDs), we were grateful for the opportunity to share our work, connect with community members, and help raise awareness of the needs of individuals and families living with these conditions. Hope in Focus also hosted an informational table where attendees could learn more about LCA, inherited retinal diseases, and available resources.

Exploring Rare Eye Diseases and the Challenges They Present

The evening featured several panels and presentations highlighting different aspects of rare eye diseases, from medical research and diagnosis to the lived experiences of patients and families.

The first panel, led by Maureen Helgren, PhD, provided an overview of rare diseases, emphasizing the importance of awareness and the challenges that individuals and families often face when navigating these conditions.

Attendees looking at posters in lobby — Lobby with informational posters

Four medical students from Quinnipiac’s Netter School of Medicine followed with presentations on four eye diseases: Cogan syndrome, retinitis pigmentosa (RP), choroidal melanoma, and Stargardt disease. Their presentations offered attendees an opportunity to learn more about these conditions and the importance of continued education among future healthcare professionals.

The Patient and Family Perspective

Hope in Focus Executive Director Courtney Coates participated in a panel focused on the experiences of patients and families affected by rare eye diseases. She was joined by two LCA caregivers, DJ Broadbin, mother of Jace, and Marcy Ward, grandmother of Michelle Ward.

Jace is one of four children who received an eye injection in London as part of a clinical trial for LCA4 associated with mutations in the AIPL1 gene. Michelle is a young woman living with LCA8, a mutation in the CRB1 gene.

Courtney Coates, DJ Broadbin and Marcy Ward speaking on panel with presentation behind them — Patient and Family Perspective Panel

Together, the panelists discussed the realities of navigating a rare diagnosis and the importance of genetic testing, accessible education, and stronger connections between medical professionals and the patient community. They also highlighted the need for appropriate assistive technology, educational tools and resources to help individuals with vision loss thrive in school and everyday life.

Their perspectives underscored the importance of ensuring that patients and families are active participants in conversations about research, treatment development, and the resources available to them.

Learn more about their journeys: Jace’s Story | Michelle’s Story

Research, Education and Community Impact

The discussion continued with Dr. Matthew Bakhoum, physician and scientist at Yale School of Medicine, and Michelle Wyatt, President of the Connecticut Lions Eye Research Foundation (CLERF). Together, they explored the role of research and education in advancing the understanding and treatment of eye diseases, as well as the broader impact of community support for these efforts.

The evening concluded with a panel titled “From Ideas to Action,” which explored ways the Lions could turn the conversations and ideas shared throughout the meeting into meaningful, lasting change. One proposal was to create a new Lions Club at Quinnipiac University, along with a five-year plan to guide future initiatives and community impact.

Building Connections and Looking Ahead

Hope in Focus is grateful to the Branford Lions Club, Quinnipiac University’s Netter School of Medicine and the Denise D’Ascenzo Foundation for bringing together such a dedicated group of individuals committed to improving the lives of those affected by rare eye diseases.

Events like this create valuable opportunities to connect patients and families with healthcare professionals, researchers, students, and community advocates. They also help build awareness of LCA and other inherited retinal diseases while encouraging new partnerships and ideas that can move the community forward.

We were especially glad to meet new members of the LCA community, reconnect with familiar faces and share information about Hope in Focus and the resources available to individuals and families affected by these conditions.

Through continued education, advocacy, and collaboration, we can help build a stronger, more connected community working toward a future with treatments for inherited retinal diseases.

Going Toward the Light: Nobel Prize Winners Discovered Optogenetics for Restoring Vision

Hope in Focus is delighted with the announcement that the Nobel Prize in Physiology or Medicine 2026 has been awarded to three researchers for their discoveries in optogenetics, a promising, innovative approach to restoring vision for people with advanced vision loss from inherited retinal diseases (IRDs) including Leber congenital amaurosis (LCA). We congratulate recipients Karl Deisseroth, MD, PhD, Stanford and Howard Hughes Medical Institute, Peter Hegemann, PhD, Humboldt University of Berlin, Germany, and Georg Nagel, PhD, University of Würzburg, Germany, for their groundbreaking research.

In simple terms, optogenetics bestows light sensitivity to cells that normally don’t sense light. In the retina, photoreceptors (rods and cones) are the light-sensing cells that give us vision. However, when someone’s photoreceptors degenerate because of a retinal disease, they lose vision. Using the concepts they learned from the Nobel recipients and other innovators, retinal researchers discovered ways to enable bipolar and ganglion cells in the retina to sense light and restore some vision. These cells don’t naturally sense light, but they often survive after photoreceptors are lost. So, when treated with optogenetic therapies, bipolar and ganglion cells can work like a backup system for photoreceptors.

Excitingly, optogenetics is in clinical trials for IRDs and is showing encouraging results. Several approaches are restoring rudimentary vision to people with advanced vision loss from retinitis pigmentosa (RP) and Stargardt disease. The biotech Nanoscope is seeking approval from the US Food and Drug Administration (FDA) for its optogenetics approach for RP and expects a decision in the first half of 2027. While optogenetics is not in clinical trials yet for people with LCA, it holds potential for restoring some vision to LCA patients. Importantly, the approach works independently of the patient’s mutated gene causing vision loss.

Other companies in clinical trials for optogenetic approaches for IRDs include: Ray Therapeutics, Bionic Sight, and Restore Vision.

Optogenetics has applications beyond retinal conditions. It is being used to study and control nerve cells in the brain to better understand how these cells work and develop new treatments for myriad neurological conditions.

The discovery of optogenetics was inspired by Dr. Deisseroth’s research into algae. He wondered how algae knew to swim toward light, its essential energy source. The answer was a protein called channelrhodopsin. Fast forward a few years and researchers began developing optogenetic therapies for IRDs that express channelrhodopsin and other light-sensing proteins.

Who knew the power of pond scum?

This article was written without AI. The author used some AI for researching the news and concepts.

Navigating Life: Thriving in a Visually Designed World

As someone with a visual impairment, getting around once felt overwhelming. I was plagued by the “what ifs.” What if I got lost? What if I missed a bus or got off at the wrong stop? What if I couldn’t find the right platform at the train station? If you or a loved one is dealing with these concerns, this article is for you.

The good news is that over time, navigating has become easy for me. Because of my experiences, I’d like to share some tips for moving through the world with a visual impairment.

Step 1: Orientation & Mobility

It is important to learn how to use a cane and practice using it every day. Many people with vision loss live in denial of their visual impairment. If you’re not currently using a cane or a guide dog and have recently bumped into something you didn’t see, start using one.

Once you’ve mastered the basics of the cane, learn to navigate independently in your immediate neighborhood. (Parents, this is when you need to step back.) Have a friend or family member walk beside you the first time, pointing out obstacles and naming streets as you cross them. When starting out, it can be helpful to count how many streets you cross before you need to turn. Consider making notes on your phone to help you remember. For example, “To get to the doctor’s office, turn right out of my house, turn left at the first intersection, turn left after walking under the train bridge, and cross two streets before turning right. The doctor’s office is the first building on the left.”

If you are nervous the first time you try the route alone, have someone walk behind you and ask them not to talk to you unless you get completely lost. It is okay to get a bit lost! Part of becoming a better navigator is making mistakes. You can also video call a friend or family member if you need help.

Step 2: Generalization

Eventually, you will start to notice patterns such as how buildings are spaced, that street addresses with odd numbers are usually on the east or south sides of the street, and the typical layout of train stations, etc.

At this point, you won’t need someone’s help traveling a route for the first time. Instead, you will use the tools available to you—reviewing routes before you leave your home, leveraging GPS along the way, and not being afraid to ask someone to confirm your location or that you are at the correct building.

Step 3: Challenge Yourself

When I was in my second year of university, I was invited to attend an event to receive a scholarship I’d won. But it was two hours away. I called my mom to ask for a ride. She lived an hour from me in the opposite direction from the event. She said that if I wanted to go, I’d need to figure out how to use the bus on my own. It was one of her best parenting decisions.

I was terrified and had to ask a lot of people for help along the way, but I did it. It was an eye-opening experience and set the wheels in motion for me to feel comfortable traveling. In previous articles, I’ve talked about hiking in the mountains and trekking up Mount Kilimanjaro. These amazing experiences wouldn’t have been possible without a lot of experience negotiating daily life with my visual impairment. With enough practice, I am confident that you can reach a point where you can travel as easily as I do.

A Vision-Restoring XLRP Gene Therapy Gets New Life: MeiraGTx to Seek FDA Approval

In May 2025, Johnson & Johnson (J&J) announced that though its emerging gene therapy bota-vec for X-linked retinitis pigmentosa (XLRP) improved vision for many patients in its Phase 3 clinical trial, the gene therapy didn’t meet its primary endpoint. Not meeting a primary endpoint in a clinical trial is not good news even when overall results are favorable.

So, the question became: Will J&J seek regulatory approval for bota-vec or perhaps continue clinical development for it? Many of us in the inherited retinal disease (IRD) community were not optimistic. We were afraid bota-vec development was finished and the treatment would never make it out to patients who so desperately needed it.

But today I am pleased to say that hope is alive for bota-vec. On April 16, 2026 ⎯ nearly a year later ⎯ MeiraGTx, the original developer of bota-vec, announced it is acquiring the bota-vec license from J&J. MeiraGTx plans to seek regulatory approval for the gene therapy in the US and EU. If approved ⎯ and that’s still a big if ⎯ bota-vec could be available to patients in 2027.

We applaud MeiraGTx ⎯ a Hope in Focus partner and developer of a vision-restoring gene therapy for LCA4 (AIPL1 mutations) ⎯ for giving new life to bota-vec. It was a bold move, no doubt. And, we applaud the many advocates in the IRD community ⎯ including researchers, patient groups, and families ⎯ for being strong voices in support of bota-vec advancement. Our voices were heard.

The important take-away message for all of us in the IRD and LCA communities is to stay tenacious, stay resilient, and continue to do our best in moving the research forward.

And never forget that hope is our superpower.

Living with IRDs: Insights and Inspiration from the Front Lines

The 2025 LCA Family Conference in Minneapolis, MN, offered four informational panel sessions, where the 135 attendees learned about living with Leber congenital amaurosis (LCA) and other inherited retinal diseases (IRDs), participating in clinical trials, and the latest research and therapy updates.

The first session, “Living with an IRD,” was moderated by Laura Manfre, co-founder and Board Chair of Hope in Focus. This session is often a highlight for families wanting to learn how to support their children diagnosed with an IRD.

Laura Manfre, Lee St. Arnaud, Elle St. Arnaud, Jack Morris, Leslie Morris

Laura posed questions to the four panel participants, which included 18-year-old Elle St. Arnaud, who has LCA IQCB1/NPHP5 and is attending Boston University this fall, and her father Lee St. Arnaud, and 22-year-old Jack Morris, who has RP CRB1 and is a recent graduate of Brown University, and his mother Leslie Morris.

Below are some of the panelists’ edited responses to Laura’s questions.

What has your school journey been like? What challenges have you faced, and how did you advocate for yourself?

Elle St. Arnaud

Elle was educated in the public schools with a paraprofessional supporting her in class from preschool through fourth grade. She said that a key to her success was learning to advocate for herself early on by participating in her individualized education plan (IEP) meetings, explaining her accommodations to teachers, and taking responsibility for communicating her needs, especially regarding her vision. Elle reflected on the importance of self-advocacy and how it has shaped her life.

“It’s vital for kids to be able to explain their accommodations, as others often don’t fully understand visual impairments,” she said. “While I’ve had positive experiences, I’ve also faced challenges, such as being discouraged from joining the debate team or taking advanced classes. I pursued both anyway, proving that being blind doesn’t limit one’s ability to succeed. Self-advocacy and standing up for your needs are essential life skills.”

Jack Morris

Jack started in public schools and later switched to a private school. His vision was relatively good throughout most of his schooling. Jack thought he might have done even more to advocate for himself. Still, regular meetings with teachers and advisors proved very helpful. He said, “When people understand what you need, they generally want to help.” Although at the university level, he said some professors were resistant to making accommodations.

He stressed that “Accommodations are not favors—they are necessary for success. Blind individuals are not less intelligent; they simply need equal access to materials to perform just as well as others. Having confidence in advocating for these needs is crucial, and legal protections like the ADA support this.”

As parents, can you share a little about your journey? How was it seeking a diagnosis, and what are some things you wish you’d known earlier?

Lee St. Arnaud

Lee explained that Elle and her older brother, Patrick, both have LCA. When trying to diagnose Patrick’s vision issues, he shared how difficult it was when the doctor offered only a brief response, instructing them to return in five months to confirm their son’s blindness. Overwhelmed, the family immediately reached out to resources like the Chicago Lighthouse for the Blind, which connected them with supportive networks and foundations.

Lee stressed the importance of parents being proactive and finding tools like a detailed year-by-year visual goals guide, which they used effectively in IEP meetings to advocate for their children’s needs. He emphasized the importance of being prepared, pushing for necessary services, and actively advocating for the child and family.

The St. Arnauds encouraged their children to participate in outside activities like adaptive climbing and the live hockey association. “So many times we were nervous and sweating bullets. But by the time we got done, the kids were like, you know what? We can do this!” Lee said.

Leslie Morris

Leslie said that Jack’s diagnosis with a recessive form of RP at age five came as a shock because there was no family history. She described feeling heartbroken and overwhelmed by a sense of loss and isolation. Despite these emotions, Leslie and her husband, Jason, chose not to accept discouraging responses from doctors. Instead, they took action—connecting with others affected by IRDs and becoming involved with the Foundation Fighting Blindness, where both serve as trustees.

Advocacy became like a second job for the Morris family, as they worked to ensure Jack had every opportunity for a full and meaningful life. Leslie said they didn’t want the disease to define their son, and they encouraged him to try various activities like baseball, football, swimming, wrestling, and guitar. “We focused on letting Jack decide when to step away from activities while gently steering him toward pursuits that offered long-term fulfillment,” Leslie said.

How do you give your child enough independence to grow and to learn, while also wanting to protect and keep them safe?

Lee St. Arnaud

Lee felt that they didn’t experience significant disagreements with Elle or Patrick regarding their ability to self-manage. He stressed the importance of balancing caution with encouragement and supporting early opportunities for independent experiences in the community without rushing the process. He also reflected on the importance of understanding your child’s interests as they mature.

Elle St. Arnaud

Elle immediately spoke up after her father, expressing her childhood frustration and conflict with her parents over having to take Orientation and Mobility (O&M) training particularly the inconvenience and social discomfort of being taken out of school. Despite hating it at the time, she admitted the lessons had long-term value, especially in promoting independence. She noted the importance of starting children early with independent tasks at home, like cooking and laundry, while pacing community-based skills more carefully. “I think parents should keep their children engaged in O&M even if the child resists,” Elle said. “Because it equips them with critical life skills—such as safely crossing the street—that pay off later.”

Leslie Morris

Leslie emphasized the importance of parental teamwork and unity, particularly when supporting a child’s journey toward independence. She admitted to being a bit of a helicopter mom. “My husband, Jason, and I agreed on things before letting Jack go out and try them,” she said. “Having somebody by your side through this journey is very important.” She added that when parents are aligned in decisions and approaches, it helps minimize conflict and makes the process smoother.

Jack Morris speaking at the 2025 LCA Family Conference

Jack Morris

Jack didn’t recall having major conflicts and expressed gratitude for the trust his parents placed in him. One slight regret he had was not wearing sunglasses earlier, due to self-consciousness. Jack said he appreciated the opportunity to try things—even fail—while still feeling supported and safe.

Much to the amusement of the conference attendees, Jack recounted a brief period when he was legally allowed to drive, a decision made with medical guidance that, in hindsight, seemed very questionable.

“I appreciated that my parents trusted me to be able to take care of myself. This journey makes you resilient, tough, and resourceful,” Jack said. “Kids can be very clever in planning solutions to their unique circumstances, and my parents trusted me in that.”

Community members have expressed that mental wellness and accepting vision loss can be difficult. Elle and Jack, what are your thoughts?

Elle St. Arnaud

“Not wanting someone to see your pain and not wanting to wear sunglasses or use a cane will likely peak around middle school,” Elle said. “No one wants to be different, and you want to be ‘on trend’ with everybody else.”

She added that having a para in the classroom with her all of the time was an inhibitor and made it harder for her to talk with other kids. “Parents should try not to hover when their child is with other children because it can make them feel less confident or social,” she said.

Elle said she made it a priority to share her experiences as a blind person with her sighted friends. “We’d make jokes about it, and I talk about it constantly. I’d share what I’ve experienced and every blind story I’ve had,” she explained. “I think that’s important because when you need to ask your friends for help, they are a lot more understanding because you’ve explained it and talked about it so many times with them.”

For example, she told her friends about walking into a door, which helped them be more aware that she might not see it, allowing them to take the initiative to guide her when needed. “I think the easiest way to be accepted is to talk more about your blindness so it feels more normal,” Elle said.

Jack Morris

“I think there’s a line to be found between letting a disease define you and rejecting that it’s a part of you, because retinitis pigmentosa (RP) has been a huge part of my story—a beautiful but also a tough part. It’s something that feels different and lonely, but also unifying and community-building,” Jack said. “If we can find ways to live in and with our disease rather than despite it, that’s where truth and freedom lie for me.”

He offered advice to parents, saying that they needed to be strong in ways that aren’t obvious. “One of the hardest things for parents is watching their child struggle. But sometimes the biggest strength is allowing them to struggle. Kids need to feel the full spectrum of emotions—challenge, loneliness, empowerment, and togetherness,” Jack said. “If parents can be there as a foundation, even when things are hard, and let them be hard before stepping in with action, that’s one of the most powerful and meaningful things they can do for their children.”

LCA5 Gene Therapy Provides Vision Improvements in Clinical Trial

Nothing is more hopeful or gratifying for the retinal disease community than an emerging or FDA-approved therapy that provides vision to people with advanced retinal disease. Such is the case with Opus Genetics’ gene therapy for Leber congenital amaurosis 5 (LCA5) in an early-stage clinical trial.

In March 2024, the company announced vision improvements for the first three adult patients in its Phase 1/2 LCA5 gene therapy clinical trial. Some patients, who had been almost totally blind since birth, can now see and identify objects for the first time. The company has also reported positive safety data for the trial thus far.

Though LCA5 patients have severe vision loss at birth, they have some surviving retinal structure that researchers believe can be harnessed for improved vision using gene therapy.

Known as OPGx-001, the gene therapy uses a human-engineered adeno-associated virus (AAV) to deliver healthy copies of the LCA5 gene to patients’ retinas, augmenting the mutated copies that cause vision loss. The therapy is administered through a one-time injection underneath the retina. Researchers believe gene therapies will be effective for many years, perhaps for the patient’s lifetime.

Opus plans to administer the next highest dose of its LCA5 gene therapy to the next cohort of adult patients in mid-2024. The company also has plans to dose patients as young as 13 years old sometime in the future.

The Phase 1/2 clinical trial is led by Tomas S. Aleman, M.D., at the Center for Advanced Retinal and Ocular Therapeutics (CAROT), Scheie Eye Institute, Department of Ophthalmology of the Perelman School of Medicine, University of Pennsylvania.

Courtney Coates, Hope in Focus’s Director of Outreach and Development, stated, “We are thrilled that patients in this trial are having early success with the low-dose treatment. We look forward to hearing more as the next cohort is enrolled for the mid-dose.”

The LCA5 gene therapy clinical trial is the first launched by Opus, a company founded in 2021 by the RD Fund, the venture arm of the Foundation Fighting Blindness, which is investing in companies near or in early-stage clinical trials for their retinal degenerative disease treatments.

VISION BEYOND SIGHT: The Power of Community

It can be easy to feel alone living with an inherited retinal disease (IRD). As a kid, only one other person in my school had a visual impairment. Recently, I went on a first date with someone who said, “Forgive me if I ask any dumb questions—I’ve never dated someone who is visually impaired before.” She is not the first person to express such a sentiment on a date with me. In fact, I’m pretty sure I’m the first visually impaired person for every woman I’ve dated. I’m also the first visually impaired colleague, friend, etc., for most people in my life.

Throughout my life, community has played a significant role in helping me feel less alone in these moments. I’ve been fortunate to be connected to groups of other visually impaired people, where I’ve been able to learn from their successes, feel less alone by connecting with others who have similar experiences, and support people who are experiencing challenges I have overcome.

It is common for young people with visual impairments not to feel fully seen or understood by their sighted peers. For many, finding a community of visually impaired peers is the first time they feel they can truly be themselves in social situations. These environments can help them develop more confidence interacting in other social situations.

Having access to such communities has helped me get to where I am today. When I think that accessibility barriers are too significant to overcome, I can look in my community for proof that it can be done. When I feel like I am the only person going through a particular challenge, I can ask my community to find someone who has already overcome it. When I encounter an accessibility = barrier that feels unfair, my community and I can work together to fix it.

Many things can contribute to a visually impaired person’s success, and having a community is one of those foundational things that I encourage everyone with a visual impairment to seek. Of course, a community can only do so much. But I’ve learned that people are resilient, and having a community can help us find and develop resiliency.

Connecting with organizations like Hope in Focus can be an excellent opportunity for you and your family. Learn more about the Hope in Focus Family Connections program, our LCA conference 2025, and other organizations supporting those living with visual impairment on our website at hopeinfocus.org.

MEET ANTHONY FERRARO: Social Media Star, Professional Athlete, Musician, and Dad Living with LCA

Prepare to be inspired by Anthony Ferraro, the featured speaker at our major fundraising event, Dinner in the Dark, on November 2, 2024, at Foxwoods Resort Casino in Mashantucket, Connecticut. Here is a sneak peek into his incredible journey.

With supercharged energy and positivity, Anthony, born with Leber congenital amaurosis (LCA), shares what it’s like to be blind through motivational speaking and his various social media platforms. His wife, Kelly Anne, helps him plan out what he wants to portray, and then she shoots and edits the videos about their life that later appear on TikTok, Instagram, Facebook, and YouTube. Anthony’s social platforms have become popular as he shares what managing the world without vision is like. As an advocate for increased accessibility, whether he’s changing diapers, making smoothies, or skateboarding, he shares how he tackles a variety of activities without sight.

Anthony wearing a tie-dye tee-shirt holding up a peace sign and his guide cane. — Anthony Ferraro

Growing up in Spring Lake, New Jersey, the youngest of five children, Anthony was born with only 20/400 visual acuity (profound vision loss). He lost a chunk of vision in seventh grade and then again in his junior year of high school. Now in his late twenties, Anthony’s vision is decreasing daily, and he says, “The light is starting to go black.”

Against the odds, Anthony became a champion wrestler in high school and was the subject of an award-winning film, A Shot in the Dark, documenting his attempt to win a state wrestling championship in his senior year. In a previous interview with Hope in Focus, he said, “Wrestling has taught me a lot of things. It taught me hard work, that things don’t happen overnight, discipline, and how to deal with loss. It helped me prepare for life.”

Anthony aims to participate in the Los Angeles Paralympic Games in 2028 in Judo. The pivot from wrestling to Judo resulted from a concussion that ended his wrestling career in college. However, this event opened the door to pursuing Judo when the U.S. Paralympic team asked him to train for the team.

Open about his life, Anthony talks about struggling with depression. “When I was 19, I got so depressed that I checked myself into a mental health hospital. I learned a lot about mental health and not bottling things up. I got to work on myself and learn about what I was feeling and going through,” he said. “When I was 21 or 22, I started accepting the fact that I was blind and started using my cane and the resources that were around. That’s when my whole life changed. Soon after, I met Kelly Anne!”

An accomplished musician and skateboarder, Anthony is game to try almost anything. He and Kelly Anne have a baby girl, and some of his videos demonstrate how he cares for her. One example is his TikTok video “How I Find My Baby as a Blind Dad.” With unending zeal and courage, which Kelly Anne fully matches, Anthony propels himself into life.

Come meet Anthony and his family at Dinner in the Dark 2024 and hear him speak about his personal experiences and hopes for a possible treatment for LCA, tickets are available at hopeinfocus.org/dinner. Learn more about Anthony and connect with him on social media at asfvision.com.

HOPE IN ACTION: A Conversation with Laura Manfre

How did Hope in Focus begin?

In 2013, after our daughter, Sofia, was diagnosed with Leber congenital amaurosis (LCA) IQCB1/NPHP5, the Foundation for Retinal Research (FRR) asked if my husband and I would be willing to raise funds for treatments for her genetic mutation. The FRR was started in 1998 by David and Betsy Brint, whose son had LCA. Little was known then about the disease, and there wasn’t an LCA community when they began. The Brints faithfully stewarded the research and a handful of LCA families to grow that organization into a real community. So, we said yes to the FRR’s request and quickly raised about fifty thousand dollars, largely from our local community in southeastern Connecticut. This success blew us away, but there wasn’t an active research project for Sofia’s gene.

Realizing that so many people were willing to help us, we thought, why not raise funds for all LCA conditions so we can put the funds we raise into use sooner? A broader funding goal would allow us to designate monies for the most promising research and advance projects already in the pipeline. All boats float in a high tide, right? It was the right thing to do. Honestly, I also thought pushing the projects that are further along faster might be the most effective way to help advance the research related to Sofia’s gene. In 2014, we incorporated our 501(c)(3). Setting up the nonprofit made it easier to steward and thank donors. In Connecticut, three people are needed to create a nonprofit. So, my husband, Chuck, myself, and our good friend, Elisse Rosen, founded Sofia Sees Hope, later called Hope in Focus when we changed our name in 2021.

I think it was in early 2017 when David Brint became chair of the board of directors for the Foundation Fighting Blindness (FFB) that the FRR was rolled into the FFB. This change was significant for LCA research because of the FFB’s incredible influence and expertise in research. At the same time, because the FFB serves all forms of blindness, this change opened a gap for focused support for our LCA community. As a single, rare disease-focused organization, Hope in Focus was able to fit right in and fill that gap.

How did your mission/vision evolve?

LCA is a rare disease, which means we are a small community, but we have shared experiences that create a strong sense of unity. As I interacted increasingly with industry and researchers, I learned just how vital it was to have an empowered community equipped to engage with research and biotech to support the advancement of treatments. At the time, it was also apparent that we needed to focus on genetic testing. Genetic diagnosis is still an issue for our community, although we’ve come a long way, and I’m pleased that our work at Hope in Focus has made a real impact in this arena with our fundraising, outreach, and awareness campaigns. When individuals in our community have a confirmed genetic diagnosis and understand how treatments are developed and brought to market, they will also know why we must speak up, be involved in fundraising, and consider participating in patient registries, natural studies, and, hopefully, clinical trials.

When I think about how we’ve evolved, although our mission has stayed the same and is still very relevant, the biggest “a-ha” for me has been realizing that it’s not enough to raise money for research. Understanding the importance of advocacy and our voice in developing our treatments is critical. As a community, we can’t wait for these treatments to fall like manna from heaven. That might be how it works for a lucky few in the future, but that is not how this process works. We must actively participate in registries, natural history studies, patient advisory boards, and legislation. And the community with a voice and a level of representation will garner interest in its rare disease. The more aware and connected we are with the entire ecosystem involved in developing treatments, the greater the opportunity to influence these things.

What have you learned about the research community?

I was surprised by how meaningful it was to meet the people behind the science. As I spoke at events and met the community working on treatments, I stopped thinking about them as a monolith. These are dedicated, caring individuals working daily to benefit people they don’t know. When they have a chance to hear from folks living with LCA, these interactions help inform their work and motivate them to keep at it. We need them to keep working hard to find those treatments, and I think hearing our stories helps. As I experienced these interactions, I realized that to achieve our mission, we needed to facilitate engagement across the entire LCA ecosystem, including everyone impacted by the disease, biotech, regulatory agencies, investors, other nonprofits, and advocacy groups. It takes a lot of people to bring a treatment to market, and we all have a part to play.

Another thing I learned was that an informed LCA community needs to make sure that positive policy decisions are made regarding research and access to treatments. Unfortunately, many legislators don’t understand rare conditions, patient protections, and the actual cost of living with a life-long disease. We must educate our legislators and ensure they make sound, sensible policies.

What helps you see the progress made by Hope in Focus?

I was very fortunate to testify at the FDA AdComm (Advisory Committee) meeting in 2017 for the approval of LUXTURNA®. That opportunity was very emotional and a significant milestone not just for those living with LCA but for all rare diseases and gene therapy. For me, it also underscored the importance of our organization. Two years later, at the LCA Family Conference, we hosted in 2019 in Philadelphia, a woman from Washington State shared the story of her son. Before he turned three years old, he was genetically diagnosed with RPE65 and treated with LUXTURNA, still the only genetic treatment for LCA available on the market. Wow! The room went silent. We were talking about getting to this point, but I was surprised it was already happening to someone in the room.

Meanwhile, there were families in that room who were still unable to get a genetic diagnosis. Hearing about her son’s early diagnosis and treatment was incredible and gave us all hope. I want to hear more of these stories for all genetic variants of LCA. Another exciting development is the growth of our international community. At our LCA Family Conference in 2023, we had folks attend from all over the world, including a family living in China who told us about their database of 130 families with the CRB1 genetic mutation. Everyone was shocked that such a large group was identified for a single gene. LCA is a rare disease, making it hard to find and connect people, and here were 130 families with the same gene. Again, wow!

What do you hope for the future?

When we started Hope in Focus, it didn’t seem like anything was happening with research for LCA from my perspective as a parent. But under the surface, research was moving forward, and many dedicated folks in the LCA ecosystem were hard at work. Ten years later, we have a treatment on the market, LUXTURNA®, with four potential treatments currently in the clinic, several preparing for trials, and multiple gene-agnostic therapies in development. There is so much hope as the science is advancing. On the other hand, it has been SEVEN YEARS since I testified before the FDA, and LUXTURNA was approved for just one of our LCA genes, and there are still no new treatments on the market for other LCA variants. We need to keep the pressure on.

What do I hope for the future? This year, Hope in Focus is engaging in strategic planning to ensure that, as an organization, we are prepared and able to meet the changing needs of our LCA families and individuals as science, regulation, and industry evolve over the next 10+ years. When I started ten years ago, LCA research was a ripple, and now it feels more like a big wave. Hope in Focus needs more help to row the boat as that wave grows, including program funding, volunteer support, and dedicated staff. As we plan for the next ten years, we must define what this looks like and what it will take to get there. I also hope that Hope in Focus will participate in more Advisory Committee meetings for drug approvals. I’m disappointed I only got to testify at one of these events! How cool would it be if we could shift from a focus on supporting the advancement of treatments to market to helping members of our community as they evaluate whether or not they want to choose a treatment and then supporting them through that process? (Make sure to read Jack’s story.)

After creating Hope in Focus, have you asked yourself, what have I done?

Yes, I ask myself that question all of the time. At the very beginning, I was one person doing almost everything. Managing a startup nonprofit is exhausting. Today, we have a small but mighty team that includes one full-time employee, but I’m still volunteering at almost the same level as in those early years. Why? Because Hope in Focus is like tapioca; it just keeps growing. I’m very grateful for all of the volunteers and our incredible staff. We’ve connected with and helped so many people from whom I’ve learned so much. While growing Hope in Focus has been very demanding, it also fills my cup, and I feel so lucky to be a part of it.

What other thoughts would you like to share?

Hope in Focus has given me a sense of control over something I had no control over and felt utterly overwhelming. I think our work does the same for other parents and individuals living with this rare disease. I see how we are helping folks today, and I know that we’re helping to advance treatments that will help someone in the future. Hope drives action, and as we keep pushing forward, I’m excited to see what the next ten years bring for our community and Hope in Focus.