Rare eye condition
Genetic testing for retinitis pigmentosa
Panel-based genetic testing can identify the gene responsible for retinitis pigmentosa in most families - guiding prognosis, family advice and eligibility for gene-specific treatment and trials.
Key points
The essentials at a glance.
What to look out for, how the diagnosis is confirmed, who looks after it, and the options that exist.
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01
Testing in the UK is done through the NHS Genomic Medicine Service using large inherited-retinal-disease gene panels.
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02
A result clarifies inheritance pattern, likely progression, and the risk to children and siblings.
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03
Identifying RPE65 variants matters because an approved gene therapy exists for that form.
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A negative or uncertain result does not exclude RP - a proportion of families remain unsolved and can be re-analysed as knowledge grows.
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Genetic counselling before and after testing is standard in specialist inherited retinal disease clinics.
Understanding it
What it is, and what happens next.
In plain English - what is going on, how specialists confirm it, and the routes to treatment in the UK.
Genetic testing has moved from an academic exercise to a core part of retinitis pigmentosa care. A single blood or saliva sample is screened against a panel covering the known inherited retinal disease genes, and in the majority of families this pinpoints the variant responsible, distinguishing RP from look-alike dystrophies and defining how it may be passed on.
Referral to a specialist inherited retinal disease clinic is the usual route: the team arranges testing, interprets variants of uncertain significance, offers genetic counselling for family planning, and checks whether the result makes you eligible for approved gene therapy or a clinical trial. In many parts of the UK, routine NHS outpatient referrals for problems like this can take several months, whereas an initial appointment with a private consultant is typically available within around two weeks.
A quiet reminder
This guide is for information, not medical advice.
Your GP or specialist knows your history and can tell you which parts apply to you. If in doubt, speak to them.
Published 2026-09-27 · Next review 2027-09-27
Frequently asked
Common questions about Genetic testing for retinitis pigmentosa.
Quick, plain-English answers to what people ask us most.
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What is genetic testing for retinitis pigmentosa?
Panel-based genetic testing can identify the specific gene responsible for retinitis pigmentosa in most families, guiding prognosis, informing advice for relatives, and determining eligibility for gene-specific treatments.
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Why is genetic testing important for retinitis pigmentosa?
Identifying the specific gene involved helps predict how the condition is likely to progress, informs the risk to other family members, and is increasingly required to determine eligibility for emerging gene therapy treatments.
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How is genetic testing for retinitis pigmentosa performed?
Testing typically uses a blood or saliva sample analysed against a panel of genes known to cause retinal dystrophies, often alongside clinical retinal examination and electrophysiology testing to guide interpretation.
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Does genetic testing always find the cause of retinitis pigmentosa?
Not always - a specific gene is identified in the majority of tested individuals, but a proportion remain genetically unexplained even after thorough panel testing, sometimes clarified later as testing technology improves.
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What happens after a gene is identified for retinitis pigmentosa?
Once a specific gene is confirmed, genetic counselling can explain the inheritance pattern and family risk, and where relevant, this opens the door to gene-specific treatments or clinical trials targeting that particular genetic cause.
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Genetic testing vs clinical diagnosis of retinitis pigmentosa - what's the difference?
Clinical diagnosis is based on retinal examination and symptoms, whereas genetic testing pinpoints the specific underlying gene, adding important information for prognosis, family counselling and treatment eligibility beyond the clinical picture alone.
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When should I consider genetic testing for retinitis pigmentosa?
Ask your ophthalmologist about genetic testing as soon as retinitis pigmentosa is diagnosed or suspected, since it informs both your own management and family planning. A private specialist can typically arrange this within about two weeks.