Understanding genetic retinal diseases requires specialist expertise, advanced diagnostic technology and access to genetic testing. Identifying the underlying genetic cause can be an important step towards understanding a diagnosis, planning future care and exploring potential research opportunities.
The Retina Clinic London is proud to offer one of the UK’s first dedicated private ophthalmic genetics services, led by Professor Susan Downes, an internationally recognised specialist in inherited and genetic retinal diseases.
Our service combines comprehensive retinal assessment with private genetic testing, including an express testing option that can provide results in as little as two weeks, where suitable.
Importantly, our close involvement in clinical research also allows patients to explore potential opportunities to participate in studies investigating new treatments for genetic retinal conditions.
A dedicated private ophthalmic genetics service
Genetic retinal diseases, also known as inherited retinal diseases, are conditions caused by changes in genes that are important for the normal development and function of the retina.
These genetic changes can affect the specialised cells responsible for detecting light, leading to changes in central vision, peripheral vision, night vision or colour perception. Some conditions become apparent during childhood, while others develop or progress later in life.
Although these conditions are often passed down through families, a patient may have a genetic retinal disease without any previously recognised family history.
The Retina Clinic London provides specialist assessment for a wide range of genetic and inherited retinal conditions, including:
- Retinitis Pigmentosa (RP): A group of genetic conditions that primarily affect the cells responsible for night vision and peripheral vision. Patients may initially experience difficulty seeing in low light, followed by a gradual narrowing of their field of vision.
- Stargardt Disease: An inherited retinal condition that primarily affects the macula, the central part of the retina responsible for detailed vision. It can lead to difficulties with reading, recognising faces and other activities requiring clear central vision.
- Cone-Rod Dystrophy: A group of genetic conditions affecting both cone and rod photoreceptor cells. These conditions can cause reduced central vision, altered colour perception, light sensitivity and difficulty seeing in low light.
- Usher Syndrome: An inherited condition that combines retinal degeneration, typically resembling Retinitis Pigmentosa, with hearing impairment. Some individuals may also experience difficulties with balance.
Other conditions assessed include inherited macular dystrophies, Best Disease, cone and rod dystrophies, X-linked retinal disorders and rarer genetic retinal conditions.
At The Retina Clinic London, Professor Downes leads our ophthalmic genetics service, bringing over 30 years of clinical experience alongside extensive expertise in retinal genetics, diagnosis and clinical research.
Private genetic testing with express results
One of the distinguishing features of our ophthalmic genetics service is the availability of private genetic testing.
Where genetic investigation is appropriate, patients can access specialist testing without having to depend on an NHS referral pathway.
For eligible investigations, our express genetic testing service can provide results in as little as two weeks, although turnaround times depend on the particular test required and laboratory processing.
Genetic testing can help identify specific genetic changes associated with retinal disease and provide greater clarity about the underlying diagnosis.
Understanding the genetic cause may also be valuable in several ways. It can help inform discussions about how a condition may progress, clarify implications for family members, support decisions about ongoing monitoring and identify whether a patient may be suitable for particular clinical research studies.
Our service also provides access to genetic counselling, helping patients and their families understand the significance of their findings.
Not every genetic test produces a definitive result, and genetic findings must always be interpreted alongside the clinical examination and diagnostic imaging.
Combining genetics with advanced retinal diagnostics
Genetic testing is most informative when considered alongside a comprehensive assessment of the retina.
At The Retina Clinic London, specialist evaluation may include:
- Optical Coherence Tomography (OCT): High-resolution imaging that reveals detailed changes within the retinal layers.
- Fundus Autofluorescence: Specialist imaging that helps identify characteristic patterns of retinal degeneration.
- Ultra-widefield Retinal Imaging: Providing detailed views of the central and peripheral retina.
- Electroretinography (ERG): Measuring the retina’s electrical responses to light to assess the function of its photoreceptor cells.
- Visual Field Testing: Assessing central and peripheral vision to understand the functional impact of retinal disease.
- Adaptive Optics Imaging: Where appropriate, providing highly detailed visualisation of individual retinal photoreceptor cells.
Together with clinical history, family history and genetic testing, these investigations help develop a more complete understanding of each patient’s condition and support a personalised approach to care.
When might an ophthalmic genetics assessment be helpful?
Specialist assessment may be particularly valuable for patients with a known or suspected genetic retinal disease, unexplained progressive changes in vision, a relevant family history or retinal findings that suggest an inherited disorder.
It may also be appropriate for individuals who have already undergone genetic testing but require specialist interpretation, or those seeking a second opinion regarding their diagnosis.
Understanding the genetic basis of a retinal condition can be important not only for present clinical management but also for future developments in treatment and research.
A centre for clinical trials in genetic retinal diseases
The Retina Clinic London is actively involved in clinical trials investigating genetic and inherited retinal diseases, reflecting our commitment to advancing the understanding and potential treatment of these often complex conditions.
Our clinical research programme includes studies exploring investigational gene therapies and other emerging treatment approaches for selected genetic retinal disorders.
These include research areas involving conditions such as Retinitis Pigmentosa, Stargardt Disease, Usher Syndrome and other inherited retinal dystrophies, depending on the studies available at a given time.
Gene therapy research is particularly significant because certain investigational treatments are designed to address specific genetic changes associated with retinal disease. As a result, establishing an accurate clinical and genetic diagnosis may be an important consideration when assessing potential eligibility.
Our involvement in clinical trials brings together specialist consultants, advanced retinal imaging, genetic investigations and dedicated research teams to support careful assessment and monitoring of study participants.
Staying informed about future clinical trials
Research into inherited retinal diseases continues to evolve, with new clinical studies opening as scientific understanding and potential treatments develop.
Even when there is no suitable clinical trial available at the time of a consultation, patients may benefit from registering their interest in future research opportunities.
At The Retina Clinic London, patients can enquire about joining our clinical research database so that, with their permission, our research team can consider contacting them when potentially relevant studies become available.
This is particularly important for genetic retinal diseases, where eligibility for individual clinical trials may depend on a specific gene, genetic variant, stage of disease or pattern of retinal changes.
Having an established clinical and genetic diagnosis, together with relevant retinal imaging and functional assessments, may help our research team identify patients who could be considered for future studies.
Patients do not need to have an immediately available treatment or trial opportunity to express an interest in research.
Registration of interest does not guarantee that a suitable clinical trial will become available, that a patient will be contacted or that they will meet the eligibility requirements for participation.
What does participation in a clinical trial involve?
Clinical trials are carefully regulated research studies designed to investigate new treatments or improve understanding of medical conditions.
Depending on the particular study, participation may involve specialist screening, advanced diagnostic imaging, genetic testing, investigational treatment and regular monitoring by the research team.
Every clinical trial has specific eligibility requirements, and participation is entirely voluntary. Investigational treatments may carry risks and are not guaranteed to provide clinical benefit.
Our research team explains the requirements of each study, including potential benefits, risks and practical arrangements, before a patient decides whether they wish to participate.
Through our continuing involvement in retinal research, The Retina Clinic London aims to support both the development of new therapies and the identification of appropriate research opportunities for patients living with inherited retinal diseases.
Patients interested in current or future studies are encouraged to discuss this with our team.
Explore our Clinical Trials and Research Programme.
Specialist genetics consultations and referrals
At The Retina Clinic London, our dedicated ophthalmic genetics service provides a personalised approach to investigating genetic and inherited retinal disease, supported by Professor Downes’s expertise, advanced diagnostic technology, private genetic testing and access to clinical research.
For patients: If you have a known or suspected genetic retinal disease, an unexplained retinal diagnosis or a family history of inherited eye disease, our team would be pleased to discuss arranging a specialist consultation.
Patients interested in potential future clinical trials can also enquire about registering their interest with our research team.
For optometrists and ophthalmologists: We welcome referrals for specialist genetic retinal disease assessment, private genetic testing and further investigation of complex retinal findings. Previous clinical history, imaging and genetic results can help inform the assessment.
To arrange a consultation, please call +44 (0)20 4548 5310 or visit our consultation page.
For further information, explore our Genetic Retinal Diseases service.
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