PRPF31
- Disease Category
- autosomal dominant
- Patient Population
- —
- Clinical Trials
- 1
- Institution(s) Conducting Research
- Oslo University Hospital
Where things stand · Clinical trials
Studies that may be relevant to review
Check current clinical trials for this gene — the Finder pulls live studies from ClinicalTrials.gov.
Find clinical trialsOpens the Clinical Trials Finder with this gene — you can change or remove it.Brief description
A clear, everyday-language overview of this gene.
PRPF31 retinitis pigmentosa is a hereditary form of retinal degeneration caused by mutations in the PRPF31 gene. A protein that is part of the spliceosome, a complex that removes introns and produces mature mRNAs. Some characteristics of PRPF31 mutations include incomplete penetrance, meaning that a.) some people with a disease-causing mutation in PRPF31 will not experience RP symptoms and b.) symptomatic carriers are often observed in affected families. Retinitis pigmentosa is a progressive disease that causes cells in the retina to degenerate. Symptoms of include loss of night vision, loss of side vision, s ensitivity to bright light, l oss of color vision, very low vision, and sensation of flashing or twinkling light. While there is no current treatment for retinitis pigmentosa, medications can help treat complications. A medical professional can diagnose the condition and manage it to improve symptoms.
Support, accessibility and family guidance(the same for every gene)
This guidance applies to anyone living with an inherited retinal condition, whichever gene is involved. Anything specific to this gene is in the section above.
- Ask before helping
- People differ widely in what assistance they want, and it changes by task and by day. Asking first respects that, and avoids help that gets in the way.
- Low-vision rehabilitation
- Low-vision specialists work on practical skills and tools for the sight someone has — lighting, contrast, magnification, orientation and mobility.
- Accessible technology
- Screen readers, magnification, high-contrast modes and voice control are built into phones and computers. Small settings changes often help sooner than new equipment.
- School and work
- Accommodations are often available well before vision loss is severe. Starting the conversation early usually makes it easier.
- Emotional and community support
- A genetic result affects the whole family. Connecting with others living with RP helps people feel less alone with it.
- Genetic counselling
- A genetic counsellor can explain what a result means for relatives, and what testing options exist, without anyone being pushed into a decision.
Medical disclaimer: This page is for education and navigation only — not medical advice, diagnosis, or treatment. These summaries are paraphrases of published research; always confirm details with a qualified clinician and primary sources.