PRPF31 Patient Community

Our Purpose

For people and families living with PRPF31 retinitis pigmentosa (RP11). Run by patients, free and independent.

• Understand. PRPF31, RP and genetic testing, in plain language.
• Uncover. Clinical trials and cutting-edge research.
• Unite. Support and resources from people living with PRPF31.

PRPF31 Explained

Retinitis pigmentosa (RP) is a group of inherited conditions in which the retina's light-sensing cells lose function over time. PRPF31 is one of the genes that cause it. RP caused by PRPF31 is also called RP11, its older name. Genetic test reports usually name the gene.

Every cell edits its genetic instructions before using them, a step called splicing. The PRPF31 protein is one of the parts that hold the cell's editing machinery together. Most of us with PRPF31 RP have one copy of the gene that doesn't work, so our cells make less of the protein than they need. The leading explanation for why the retina suffers is that it is one of the busiest tissues in the body. The rest of the body does not seem to be affected.

PRPF31 RP is rare. Even so, PRPF31 is one of the most common genetic causes of autosomal dominant RP and is probably undercounted, because some carriers never have symptoms.

Symptoms

• Reduced Night Vision. This is usually the first sign. Trouble seeing in dim light or moving around in the dark often starts in childhood or the teenage years. In children it can look like clumsiness at night.
• Narrowing Side Vision. Over the years that follow, the field of vision closes in from the edges, which is sometimes called tunnel vision.
• Central Vision. This tends to last longest. Some people keep good reading vision until a late stage.
• Other Changes. Some people also notice sensitivity to glare or changes in color vision.

The pace varies widely, even within one family, and when symptoms start can depend partly on the type of PRPF31 change.

RP can also bring cataracts and swelling in the retina. Both can be treated, which is one reason regular check-ups matter.

Inheritance

PRPF31 RP is autosomal dominant: one changed copy of the gene is enough to put someone at risk. Each child of a person who carries it has a 50% chance of inheriting it, sons and daughters alike.

What makes PRPF31 unusual is that some carriers never lose any sight. This is called incomplete penetrance. In some people the healthy copy of the gene works harder and makes up most of the shortfall. Inherited differences, some near the gene and some elsewhere in our DNA, act like a dimmer on the healthy copy and help decide who is affected. So the condition can seem to skip a generation: a parent with normal sight can still pass it on.

Occasionally a PRPF31 change appears for the first time in someone with no family history. A genetic counselor can help a family work through who should be tested and when.

Genetic Testing

A genetic test turns a diagnosis of "RP" into "PRPF31 RP." It confirms the cause, helps relatives understand their own risk and is usually needed to take part in clinical trials.

In the US, the Foundation Fighting Blindness offers no-cost genetic testing and counseling for people with a clinical diagnosis of an inherited retinal disease, ordered by any eye care professional. Blood relatives on the affected side of the family can often get free testing for the family's PRPF31 change.

Some PRPF31 changes are large deletions or sit deep inside the gene. Not every test looks for them. When dominant RP runs in a family and no gene has been found, a genetic counselor can advise whether further testing makes sense.

Outside the US, Retina International can point to patient organizations and testing in other countries.

Our Advantage

One treatment for all

Most inherited eye diseases need a treatment built for the specific gene and sometimes for the specific change in it. PRPF31 is different. Almost every PRPF31 change ends the same way: our cells make too little PRPF31 protein. So a treatment that raises the protein could help nearly all of us, whatever our exact change.

The same idea, turning up the healthy copy of a gene, is being tested in other conditions caused by too little of a protein, including a severe childhood epilepsy and an inherited optic nerve disease. Progress in any of them strengthens the case for all of them.

Research

There is currently no approved treatment for PRPF31 RP.

Research is active. Because most of us make too little PRPF31 protein, most work aims to raise the amount, by one of three routes:

• Turn Up the Healthy Copy

  Repeated injections into the eye help the working copy make more protein. This approach is in clinical trials.

• Add a Working Copy

  A harmless virus delivers a fresh copy of the gene to the retina, ideally in a single treatment. Lab studies in patients' own retinal cells have shown this can repair the cells' editing and their cleanup work. It is in preclinical development.

• Repair the Faulty Copy

  Short strands of genetic material correct how the faulty copy is read. This fits only certain specific changes. Researchers have shown it partly correcting one such change in patient cells.

Some approaches being studied for RP in general work regardless of the gene involved, including optogenetics, which makes surviving retinal cells sensitive to light, and cell-based therapies. Some late-stage RP trials are open to people with any RP gene, PRPF31 included.

All of these approaches are investigational. None has yet been proven safe and effective for PRPF31 RP.

We don't endorse any company, treatment or trial. To see which clinical trials are recruiting, search ClinicalTrials.gov for PRPF31.

Next Steps

1. Confirm the Gene

   Ask an eye doctor about genetic testing. In the US it can be free.

2. See a Specialist

   Ask for a referral to a retina specialist who sees inherited retinal diseases and keep up regular check-ups.

3. Talk with Family

   Relatives may want testing or counseling, including those with normal sight.

4. Join the Registry

   The free My Retina Tracker Registry helps connect people with researchers and clinical trials. Anyone tested through the no-cost program is already enrolled.

5. Find Each Other

   Join our private group, where we share experiences, questions and news.

Community

Our private Facebook group is where the PRPF31 community meets. It is for people with PRPF31, people awaiting genetic testing, parents, family members and friends. It is dedicated to PRPF31 alone. Joining takes two short questions and agreeing to the group rules.

• Private. Only members see posts. What is shared in the group stays in the group.
• Independent. No selling and no promotion of products, services or companies.
• Welcoming. We are all at different stages and every question is welcome.

Updates

Sign up to hear about research studies, clinical trials and news relevant to PRPF31. Every person who signs up helps show researchers and drug developers how many of us there are and that we are ready to take part.

We will never sell anyone's details or share them without permission.

Questions

About Us

PRPF31.org is the patient community for PRPF31 retinitis pigmentosa. It was started in 2026 by people living with PRPF31 for patients, carriers and families wherever they live. It helps our community speak with researchers, doctors and foundations. We welcome links and partnerships with other patient organizations.

It is independent and self-funded: it doesn't sell anything, takes no money from companies and doesn't endorse any company, treatment or trial.

Questions or ideas? Message us on Facebook.