Rare eye condition
Getting a retinal dystrophy diagnosed: the pathway
Suspected inherited retinal disease follows a defined pathway in the UK - retinal imaging, electrophysiology and genetic panel testing through specialist inherited retinal disease clinics.
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.
-
01
The route starts with an optometrist or ophthalmologist noticing suspicious retinal changes, night blindness or unexplained visual loss.
-
02
Core tests are OCT, fundus autofluorescence imaging and electroretinography (ERG).
-
03
Genetic panel testing through the NHS Genomic Medicine Service looks at hundreds of retinal disease genes from one blood sample.
-
04
Specialist IRD clinics interpret results, provide genetic counselling and hold registers for research and trials.
-
05
A confirmed genetic diagnosis increasingly changes management - from gene therapy eligibility to family screening.
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.
Inherited retinal diseases are individually rare but collectively a leading cause of visual impairment in working-age adults, and the diagnostic pathway has become far more structured. The aim is no longer just to name the pattern of disease but to identify the precise gene, because prognosis, family advice and treatment options all hang on it.
If a retinal dystrophy is suspected, ask for referral to a specialist inherited retinal disease clinic: these centres combine imaging, ERG and genomic testing in one pathway, and can re-investigate people diagnosed clinically years ago whose gene was never identified. 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 Getting a retinal dystrophy diagnosed: the pathway.
Quick, plain-English answers to what people ask us most.
-
What is the pathway for diagnosing a retinal dystrophy in the UK?
Suspected inherited retinal disease follows a defined pathway in the UK, involving retinal imaging, electrophysiology testing (which measures the retina's electrical response to light), and genetic panel testing through specialist inherited eye disease clinics.
-
What is electrophysiology testing for retinal dystrophies?
This is a specialised test that measures the electrical signals generated by the retina in response to light, helping to characterise which cells (rods, cones, or both) are affected and how severely, guiding diagnosis.
-
Why is genetic testing important for retinal dystrophies?
Genetic testing confirms the specific gene involved, which can guide prognosis, inform family risk and genetic counselling, and increasingly determines eligibility for emerging gene-specific treatments and clinical trials.
-
What are the symptoms that suggest a retinal dystrophy?
Symptoms include night blindness, gradual loss of peripheral vision, difficulty adapting to changes in light, and progressive central vision loss, varying by which specific condition and genes are involved.
-
Can retinal dystrophies be treated?
Treatment options are expanding, including gene therapy for a small number of specific genetic causes, alongside low vision support and, for many, monitoring for research and clinical trial opportunities as the field develops.
-
Retinal dystrophy vs age-related macular degeneration - what's the difference?
Retinal dystrophies are inherited conditions usually presenting earlier in life with a specific genetic cause, whereas age-related macular degeneration develops later in life from ageing changes rather than inheritance, and the two need very different work-ups.
-
When should I see a specialist about a suspected retinal dystrophy?
Ask for referral to a specialist inherited eye disease clinic if night vision problems or unexplained progressive vision loss run in your family. A private ophthalmologist can typically be seen within about two weeks to start this pathway.