What are Genetic Retinal Diseases?
Genetic retinal diseases encompass a range of conditions that affect the retina, the light-sensitive tissue at the back of the eye responsible for vision. These diseases are often hereditary and can lead to progressive vision loss if left untreated.
How do we diagnose and monitor these conditions?
At The Retina Clinic London, we offer comprehensive services for the diagnosis and management of genetic retinal diseases. Our approach begins with a thorough evaluation of each patient’s medical history and symptoms, followed by a series of advanced diagnostic tests to precisely assess the condition of the retina and develop personalized treatment plans.
Advanced Imaging Technologies
We utilise state-of-the-art imaging technologies to obtain detailed images of the retina, allowing for early detection and precise monitoring of genetic retinal diseases. These imaging modalities play a crucial role in diagnosing and tracking the progression of these conditions:
Ultra-widefield OCT (Optical Coherence Tomography)
This non-invasive imaging technique provides high-resolution cross-sectional images of the retina, allowing us to visualize its layers and detect abnormalities such as fluid accumulation, thinning, or structural changes. Ultra-widefield OCT enables us to assess the extent of retinal involvement, facilitating early diagnosis and monitoring disease progression over time.
Ultra-widefield OCT-A (Optical Coherence Tomography Angiography)
OCT-A enables us to visualize the blood flow in the retina and choroid without the need for dye injection. By assessing retinal vasculature, OCT-A helps in diagnosing and monitoring vascular retinal diseases, such as retinal vascular occlusions and diabetic retinopathy.
Adaptive Optics Imaging
This advanced imaging technology allows for precise visualization of individual retinal cells and microstructures, providing valuable insights into the microscopic changes associated with genetic retinal diseases. Adaptive optics imaging helps us detect subtle abnormalities in photoreceptor distribution and assess disease severity with high resolution.
Optos Ultra-Widefield Autofluorescence (UWF AF) and Multi-wavelength Fundus RGB Imaging
UWF AF imaging captures widefield images of the retina, highlighting areas of abnormal autofluorescence that may indicate retinal degeneration or dysfunction. Additionally, our Optos system offers Multi-wavelength Fundus RGB Imaging, providing high-resolution colour images of the retina across multiple wavelengths of light. This comprehensive imaging approach allows for detailed visualisation of retinal structures and abnormalities, enhancing our ability to diagnose and monitor genetic retinal diseases.
Heidelberg OCT and Blue Autofluorescence (AF)
These imaging modalities complement traditional OCT imaging by providing additional information on retinal structure and function. Heidelberg OCT offers high-resolution cross-sectional images, while Blue Autofluorescence imaging helps detect lipofuscin accumulation, aiding in the assessment of disease progression and response to treatment.
Microperimetry and Visual Fields Testing
These functional tests evaluate the sensitivity of the retina to light and provide valuable information about peripheral vision. By mapping retinal sensitivity and detecting scotomas, microperimetry and visual fields testing assist in assessing disease severity, functional impairment, and treatment efficacy.
Genetic Testing at The Retina Clinic London
In addition to advanced imaging, we offer genetic testing services to identify specific gene mutations associated with genetic retinal diseases. Our retina panel includes genes known to be involved in various retinal conditions, such as retinitis pigmentosa, Stargardt disease, and inherited macular dystrophies. Genetic testing plays a crucial role in:
As part of our genetic testing process, we provide comprehensive genetic counselling services to guide patients through the testing process, including informed consent and result interpretation. Our dedicated genetics counsellor ensures that patients understand the implications of genetic testing and receive support throughout their genetic testing journey.
Advantages of Our Genetic Testing Service
The Retina Clinic London offers a streamlined genetic testing process focused on retinal diseases, providing results specific to the retina in approximately three months. This targeted approach allows for faster turnaround times compared to the NHS, which typically conducts full genome sequencing that can take over a year to process. By specializing in retinal genetics, we expedite the diagnostic process and facilitate timely interventions, offering patients access to personalized care and treatment options tailored to their genetic profile.
How can I be seen by a specialist?
Contact us now to book an initial consultation to be seen by Prof. Stanga or a member of his medical team who specialises in genetic retinal diseases.
