Introduction
Retinitis Pigmentosa, Stargardt’s Disease, Cone-Rod Dystrophies, and Usher Syndrome
At The Retina Clinic London, we specialise in diagnosing and managing genetic retinal diseases. These inherited conditions, such as Retinitis Pigmentosa (RP), Stargardt’s Disease, Cone-Rod Dystrophies (CRDs), and Usher Syndrome, can progressively affect the retina, leading to vision loss over time.
While there is no cure for most of these conditions, early diagnosis, personalised management strategies, and access to clinical trials can help patients better understand their condition and optimise their remaining vision. Led by Professor Susan Downes, an expert in retinal genetics, we provide compassionate, patient-centred care supported by advanced diagnostic tools and a dedicated genetic testing service.
What Are Genetic Retinal Diseases?
Common Genetic Retinal Diseases
1. Retinitis Pigmentosa (RP)
- RP primarily affects rod cells, which are responsible for night and peripheral vision. As the condition progresses, cone cells responsible for colour and central vision can also deteriorate.
- Symptoms: Night blindness, tunnel vision, central vision loss, and colour vision deficiency.
- Inheritance: RP can be inherited in autosomal dominant, autosomal recessive, or X-linked patterns.
2. Stargardt’s Disease
- Stargardt’s primarily affects the macula, the central part of the retina, leading to progressive central vision loss while peripheral vision often remains intact.
- Symptoms: Blurred central vision, difficulty seeing in low light, and progressive loss of fine detail.
- Inheritance: Typically inherited in an autosomal recessive pattern.
3. Cone-Rod Dystrophies (CRDs)
- CRDs affect both cone and rod cells, resulting in a combination of central and peripheral vision loss.
- Symptoms: Loss of central vision, night blindness, tunnel vision, photophobia, and colour vision deficiency.
- Inheritance: CRDs can be inherited in autosomal dominant, autosomal recessive, or X-linked patterns.
4. Usher Syndrome
- Usher Syndrome is a condition that combines retinitis pigmentosa with hearing loss, which may range from mild to profound.
- Symptoms: Night blindness, progressive tunnel vision, and hearing difficulties. In some cases, balance issues may also be present.
- Inheritance: Usually inherited in an autosomal recessive pattern.
How Are Genetic Retinal Diseases Diagnosed?
At The Retina Clinic London, we use advanced diagnostic tools to assess the extent of retinal damage and confirm the underlying genetic condition. This thorough evaluation allows us to create personalised management plans.
Advanced Diagnostic Approach
1. High-Resolution Macula Optical Coherence Tomography (OCT)
- Provides detailed cross-sectional imaging of the retina, enabling us to detect damage to photoreceptors and retinal pigment epithelial (RPE) cells caused by genetic conditions.
2. Adaptive Optics
- This technology provides ultra-detailed imaging of individual photoreceptor cells, giving unparalleled insight into how genetic diseases are affecting these cells.
3. Ultrawidefield Fundus Imaging
- Captures the entire retina in a single image, helping to assess peripheral damage and identify other potential retinal complications.
4. Ultrawidefield OCT
- Examines the retina’s structure, including peripheral regions, for a comprehensive evaluation.
5. Visual Field Testing
- Maps peripheral vision loss or central visual field abnormalities associated with genetic retinal diseases.
6. Electroretinography (ERG)
- Measures the retina’s electrical response to light, evaluating the function of rod and cone cells.
Genetic Testing Service at The Retina Clinic London
Our genetic testing service offers a fast and accurate way to confirm a diagnosis for inherited retinal diseases, helping patients and their families understand the genetic basis of their condition.
Why Choose Our Genetic Testing Service?
- Targeted Retina Panel: We test for mutations in known retinal disease genes, providing precise results for conditions like RP, Stargardt’s Disease, CRDs, and Usher Syndrome.
- Faster Results: With our dedicated panel, patients receive results within three months, compared to up to a year for NHS full-genome sequencing.
- Testing for Relatives: Once a mutation is confirmed, family members can also be tested to assess their genetic risk.
- Genetic Counselling: Our experienced genetic counsellor guides patients and their families through the process, explaining results and offering support.
What to Expect from Genetic Testing
- Initial Consultation: We review your medical and family history to assess your symptoms and determine if genetic testing is appropriate.
- Blood Sample Collection: A simple blood test is taken and sent to a specialised lab for analysis.
- Results and Counselling: Once results are available, we will schedule a consultation to explain the findings and discuss their implications for your care and family planning.
Treatments and Management of Genetic Retinal Diseases
While there is no definitive cure for most genetic retinal diseases, our team provides personalised management strategies to help patients adapt to their condition, preserve remaining vision, and improve quality of life.
- Vitamins and Supplements
Certain supplements may help protect retinal cells and slow disease progression. We offer tailored advice based on your specific condition and medical history. - Gene Therapy
We are involved in ongoing gene therapy trials for inherited retinal diseases, which aim to restore or preserve vision by delivering functional genes to the retina. Patients are encouraged to contact us to learn whether trials are available for their condition. - Managing Macular Oedema
Macular oedema caused by conditions like RP can be treated with:
– Eye Drops: To reduce swelling.
– Intravitreal Injections: Anti-VEGF injections are used to manage fluid accumulation and protect central vision. - Low Vision Aids and Rehabilitation
We work closely with patients to recommend assistive devices such as magnifiers, screen readers, and specialised glasses, and provide access to low vision rehabilitation services.
Living with Genetic Retinal Diseases
Adapting to life with a genetic retinal disease can be challenging, but we are here to support you every step of the way:
- Emotional Support: Our genetic counsellor will connect you with site-support charities and organisations that help patients living with inherited retinal diseases. These resources provide coping strategies, practical advice, and community support.
- Low Vision Rehabilitation: We help patients maintain independence by teaching adaptive techniques and recommending assistive devices for daily tasks.
- Regular Monitoring: Ongoing follow-ups with our specialists ensure careful tracking of your condition and timely interventions.
Why Choose The Retina Clinic London?
At The Retina Clinic London, we combine world-class expertise with advanced diagnostics and a personalised approach to provide exceptional care for patients with genetic retinal diseases.
What Sets Us Apart
- Expert Leadership: Led by Professor Susan Downes, a leader in retinal genetics, our clinic offers unparalleled expertise.
- Advanced Diagnostics: Tools such as adaptive optics, OCT, and ultrawidefield imaging allow for precise evaluation and monitoring.
- Dedicated Genetic Testing Service: Fast results, family testing, and expert genetic counselling provide clarity and support for patients and their families.
- Access to Clinical Trials: We offer opportunities to participate in gene therapy trials and other cutting-edge treatments.
- Personalised Care Plans: Every patient receives a tailored management plan to address their unique needs and optimise their care.
If you or a family member is affected by a genetic retinal condition, contact The Retina Clinic London today. We are here to guide you through understanding your condition, exploring treatment options, and providing compassionate support.
For appointments, call +44 (0)20 4548 5310 or email info@theretinacliniclondon.com.