Unlocking Answers for Retinitis Pigmentosa: New Insights from a Nationwide Study

Seeing the Bigger Picture of Retinitis Pigmentosa

Retinitis Pigmentosa (RP) is a rare inherited eye condition that causes progressive vision loss. It often begins with difficulty seeing at night or in dim light and gradually affects peripheral (side) vision over time. The cause of RP can vary from person to person. — Knowing the specific genetic cause can make a big difference.

Our research team recently analyzed data from 441 individuals with RP, all of whom received genetic counseling and testing through Genome Medical between 2019 and 2025. These individuals came from 47 U.S. states. Our goal was to better understand how often genetic testing provides clear answers for RP — and which genes are most commonly responsible.

What We Found

Nearly half (48.5%) of our patients received a clear genetic diagnosis — meaning we could identify the specific gene responsible for their RP. That information can be life-changing, offering clarity about inheritance patterns, family risks, and potential treatment options.

Even more encouraging, the likelihood of getting a clear genetic answer has improved over time: In 2019–2021, 43% of our patients had a definitive result. By 2022–2025, that number had risen to 56%

Common Genes Identified

Among those with confirmed genetic findings, 43 different genes were associated with RP. The most common were:

• USH2A – ~23.8
• RHO – ~11.2%
• EYS – ~6.5%
• PRPH2 – ~5.6%
• RP1 – ~4.7%

Most diagnoses followed an autosomal recessive inheritance pattern (57.5%), meaning two copies of the gene variant were needed to cause RP. Others were autosomal dominant (35%) or X-linked (7.5%).

Why This Matters

These findings highlight the power of genetic counseling and testing for individuals with RP. Knowing your genetic cause can:

• Clarify how RP runs in your family
• Identify whether your relatives could be at risk
• Open the door to gene‐specific treatments and clinical trials
• Provide peace of mind by turning uncertainty into understanding

If you or someone in your family has a retinal disease, it’s worth knowing that scientific understanding of the genes and variations associated with retinal function is constantly advancing. Even if you had testing before that didn’t find a cause—or gave uncertain results—you may still benefit from updated testing. Most retinal diseases are genetic, and newer tests may be able to find answers that weren’t possible before.

What’s Happening in Treatments & Trials: A Message of Hope

The science of RP is rapidly advancing, and several promising gene therapies and clinical trials are available or soon to be. These treatments aim to:

• Stop or slow disease progression by rescuing or preserving retinal cells.
• Improve vision (for example acuity or light sensitivity) in some patients.
• Restore some function in conditions where vision is severely lost, by using new approaches like optogenetics or gene-agnostic therapies.
• Expand options for patients with many different underlying genes, not just one.

If you have RP, you may be eligible for a clinical trial, especially if your genetic cause is identified. Even if there is no approved gene therapy yet for your specific gene, many are in development and knowing your gene helps determine eligibility.

How Genome Medical Can Support You

Every year brings new discoveries about RP genes and potential therapies. This study, built from the real-world experiences of Genome Medical’s own patients, reflects a growing national momentum toward precision medicine for inherited eye conditions.

At Genome Medical, our mission is to make expert genetics care accessible to everyone. Whether you’re newly diagnosed or years into your RP journey, our clinical team is here to help you understand your results, explore next steps, and connect to specialized care and research opportunities.

If you or a loved one has been diagnosed with RP, consider speaking with a genetic counselor. You may be closer to answers — and hope — than ever before.