Inherited retinal disease: the basics and interactive cases
Do you stay up at night wondering why mutations in a splicing factor gene give non-syndromic retinitis pigmentosa? If so, this course might NOT be for you, you already know too much. The course aims to equip participants with the basics for identifying and managing patients with inherited retinal diseases. Although individually rare, these conditions collectively are a major cause of blindness in children and the working age. We are now better able to achieve a genetic diagnosis in the majority of our patients, and this is now becoming standard of care – the molecular diagnosis can help exclude non-genetic disease, give information on the risk of relatives or children being affected, give some prognostic information, and determine eligibility for novel therapies. Genomic testing can now be accessed by any clinician. As well as focusing on the basics, a full 50% of this course will be devoted to a range of engaging, interactive cases with key learning points emphasised. The course will be relevant for trainee and consultant ophthalmologists, including retinal specialists. The course might also be of interest to optometrists and allied health professionals who encounter patients with inherited retinal disease.
Programme organised and delivered by Professor Omar Mahroo, Consultant Ophthalmologist, Moorfields Eye Hospital &
Professor of Retinal Neuroscience, University College London
09.00 – 09.30 Registration
09.30 – 10.00 Introduction
10.00 – 10.30 Approach to patients: The history, the family tree, modes of inheritance
10.30 – 11.30 X Linked disease and carrier phenotypes
11.00 – 11.30 Coffee break
11.30 – 12.00 Investigating: retinal imaging and electrophysiology basics
12.00 – 12.30 Investigations: genetic testing and the top genes
12.30 – 13.30 Lunch
13.30 – 14.30 Interactive cases session 1
14.30 – 15.00 Coffee break
15.00 – 15.30 Interactive cases session 2
16.00 – 16.30 The future, concluding remarks and feedback