This is a specialist appointment for patients with suspected or confirmed inherited eye disease. In this appointment, you will have a detailed assessment of your eye and your condition (phenotyping).

We will start with a comprehensive history to understand your condition and its impact on you. You will be expected to provide a family history so we can understand the inheritance of your condition. It is often a good idea to discuss this with your extended family prior to your appointment so you have the necessary information. We will also ask about your medical history in detail, as many inherited eye diseases can be associated with conditions in the rest of the body.

Comprehensive imaging and evaluation of the eyes will follow. This will include multimodal imaging on our state of the art equipment (Spectralis OCT and autofluorescence, Optos ultrawidefield imaging). You may also require electrodiagnostic testing to provide an objective assessment of the function of the retina, and visual field testing to assess the amount of peripheral vision loss.

We will discuss the clinical diagnosis and the role of genetic testing in providing a molecular diagnosis. We will also discuss how this disease can affect your life, including your ability to drive, and its implications to the rest of the family. Finally, we will also address current treatment and future research on these condition, and how you can be involved in clinical trials.