Genetic Eye Disease

Inherited retinal degenerations encompass a range of genetic conditions that affect the…

What are Inherited Retinal Degenerations?

Inherited retinal degenerations encompass a range of genetic conditions that affect the structure and function of the retina, the light-sensitive tissue lining the back of the eye. These conditions are typically caused by mutations in specific genes that are crucial for maintaining the health and integrity of retinal cells. As the disease progresses, the affected retinal cells degenerate, leading to a gradual loss of vision.

More common types of inherited retinal degenerations include retinitis pigmentosa, Stargardt disease, Leber congenital amaurosis, and Usher syndrome. These conditions can manifest with various symptoms, including night blindness, peripheral vision loss, central vision impairment, and colour vision abnormalities.

The Role of Subspecialist Evaluation and Diagnosis

Due to the complex nature of inherited retinal degenerations, it is crucial to seek evaluation and diagnosis from subspecialists who have expertise in this field. At Medical Optics, our consultant Ms. Emma Duignan has undergone advanced specialised training in the diagnosis and management of inherited retinal degenerations. At our practice, we can utilise advanced diagnostic tools, including genetic testing and specialised imaging techniques, to accurately identify and diagnose inherited retinal degenerations.

Comprehensive Inherited Retinal Degeneration Services at Medical Optics

When you choose Medical Optics for the evaluation and management of inherited retinal degenerations, you can expect comprehensive services designed to meet your unique needs. Our subspecialist ophthalmologist will provide:

  1. Thorough Clinical Evaluation: We conduct detailed medical and family histories, comprehensive ocular examinations, and specialised tests to assess your visual function and identify specific features associated with inherited retinal degenerations.
  2. Genetic Testing: Genetic testing plays a crucial role in diagnosing inherited retinal degenerations. We offer molecular genetic testing to identify specific gene mutations associated with your condition. Genetic testing can aid in accurate diagnosis, risk assessment for family members, and personalised treatment planning.
  3. Specialised Imaging: We utilize advanced imaging techniques, such as optical coherence tomography (OCT) and fundus autofluorescence (FAF), to assess the structure and function of the retina in detail. These imaging modalities help us monitor disease progression.
  4. Individualized Treatment Plans: While there is no cure for inherited retinal degenerations, various interventions can help manage symptoms and slow disease progression. Our subspecialists will develop personalised treatment plans based on your specific condition, which may include low-vision aids, gene therapies (where applicable), clinical trials, and counselling for adaptive strategies to enhance your quality of life.
  5. Ongoing Care and Support: Inherited retinal degenerations often require lifelong management and follow-up care. Our dedicated team at Medical Optics is committed to providing ongoing support, monitoring disease progression, and adapting treatment plans as needed to optimise your visual outcomes and overall eye health.

Schedule a Consultation at Medical Optics

If you suspect you have an inherited retinal degeneration or have a family history of such conditions, we encourage you to schedule a consultation at Medical Optics We are committed to delivering the highest standard of care, combining our specialised knowledge with advanced technologies to optimise your visual potential and enhance your quality of life.

Book an appointment today

Should you require any assistance or have specific scheduling requirements, our friendly staff is ready to assist you.

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