Course aims

• To bring you up-to-date with the latest advances in genetic eye disease and how best to manage your patients
• To provide practical advice on how to undertake WGS and other forms of genetic testing (consent to reporting)
• To enable understanding of the genetic report including variant interpretation (ACMG/AMG guidelines)
• Case studies to demonstrate importance of variant interpretation and multidisciplinary team discussion
• To provide knowledge of future developments in the field including therapeutics

Course structure

This is a one day course that will comprise 10 sessions, each of 30-45  minutes in length. The following topics will be covered:

• Eye disease – what to test and what not to test.
• Modern genetic testing – under the hood.
• Inherited eye disease
• Paediatric ophthalmology
• Structural Eye disease
• Optic neuropathy
• Consent and ethics
• Understanding the results
• Personalised medicine – the future
• Gene-directed treatments

The course will take place live online on Zoom.

This course is intended for Ophthalmologists (including consultants, trainees, fellows, non-training grades), clinical geneticists with an interest in inherited eye disease, genetic counsellors, clinical scientists, optometrists.

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