What are inherited retinal diseases?
Inherited retinal diseases, also known as genetic retinal conditions, are a group of disorders caused by genetic changes, sometimes called variants, that affect how the retina develops or functions. The retina is the light-sensitive layer at the back of the eye.
These conditions can affect central vision, peripheral vision, night vision or colour vision. Some begin in childhood, while others become apparent later in life.
Examples include retinitis pigmentosa, Stargardt disease, cone-rod dystrophy, Usher syndrome and X-linked retinoschisis.
What symptoms can they cause?
Symptoms vary depending on the condition and may include:
- Difficulty seeing in low light or at night
- Loss of peripheral vision
- Blurred central vision
- Reduced colour vision
- Light sensitivity
- Difficulty reading
- Gradual changes or deterioration in vision
A family history of retinal disease may also be relevant. However, some patients are the first known person in their family to receive a diagnosis.
Because these symptoms can overlap with other retinal conditions, specialist assessment is important.
Why does genetic testing matter?
Genetic testing can identify a genetic change associated with an inherited retinal disease and provide greater diagnostic clarity.
The result can also help guide discussions about likely progression, implications for family members and possible eligibility for clinical trials or emerging research therapies.
A genetic result may not always provide a complete explanation, and it does not necessarily mean that a treatment is immediately available. Careful specialist interpretation is therefore important.
Even where there is currently no treatment for the underlying genetic cause, testing remains a valuable step in understanding the condition and planning long-term care.
How are inherited retinal diseases assessed?
At The Retina Clinic London, patients are seen by consultants with specialist expertise in inherited and genetic retinal conditions.
Assessment may include:
- Optical coherence tomography, known as OCT, which produces detailed cross-sectional images of the retina
- Ultra-widefield retinal imaging
- Fundus autofluorescence, which highlights patterns of stress or damage in the retinal pigment layer
- Visual field testing
- Electroretinography, which measures the electrical responses of the retina to light
- Genetic testing
- Specialist consultation and interpretation of results
Together, structural imaging, functional testing and genetic assessment provide a detailed picture of the condition and how it is affecting vision.
Our genetic testing service includes specialist interpretation of the findings and access to a genetic counsellor. The counsellor can take patients through their results, explain what they may mean for the patient and their family, answer questions and support informed decision-making.
Are treatments available?
Treatment depends on the specific diagnosis.
For most inherited retinal diseases, there is currently no widely available treatment that can reverse or stop the underlying genetic cause. However, monitoring, visual rehabilitation, low-vision support and treatment of associated eye conditions can play an important role in preserving independence and quality of life.
Gene therapy and emerging treatments
At present, only one gene therapy is approved for an inherited retinal disease in the UK and Europe:
- Voretigene neparvovec (Luxturna), for eligible patients with vision loss caused by inherited retinal dystrophy due to confirmed mutations in both copies of the RPE65 gene and sufficient viable retinal cells
All other gene therapies and cell-based treatments for inherited retinal diseases are not yet approved for routine clinical use. They are principally being investigated through carefully regulated clinical trials and research studies.
Clinical trials
For selected patients, clinical trial assessment may provide access to research studies investigating new gene therapies, cell therapies and other emerging treatments.
Eligibility depends on several factors, including:
- The specific diagnosis
- Genetic test results
- Stage of disease
- General eye health and overall health
- Individual study criteria
Clinical trial availability changes over time, and participation is always voluntary. Suitability is assessed carefully by the research team.
Our approach
The Retina Clinic London is actively involved in retinal research and clinical trials, including work in inherited retinal diseases.
Our consultants specialising in genetic retinal conditions provide detailed clinical assessment, genetic testing and long-term guidance. Patients also have access to a genetic counsellor who can explain their results and discuss possible implications for relatives, future monitoring and relevant research opportunities.
Our approach combines advanced retinal imaging, functional testing, genetic investigation and access to research pathways where appropriate.
The aim is to provide clarity, informed guidance and expert long-term support, while identifying relevant opportunities for research participation when available.
The next step
If you have been diagnosed with an inherited retinal disease, have a family history of retinal disease or are experiencing symptoms such as night blindness or peripheral vision loss, a specialist consultation can help clarify the diagnosis and guide the next steps.
To book your consultation, please call us on +44 (0)20 4548 5310 or visit https://www.theretinacliniclondon.com/book-a-consultation/
We’re here to help.