Testing the genome in ophthalmology – what’s new?

This course will provide an overview of genetics and genomics for IED: an up to date overview of genetics of IED including inheritance, types of mutations, genetic testing, genomics, consent for WGS, variant interpretation, how to interpret a genetic report and clinical management/counselling. We will discuss the benefits of genetic testing for IED, advice on who to test, why, when and how in the era of genomic medicine. We will provide a guide on how to manage our genetic patients and how to access guidance and support.

The course has been developed and led by world leading experts in genetic eye disease based at Moorfields Eye Hospital, UCL Institute of Ophthalmology and Great Ormond Street Hospital for Children, and lectures delivered primarily by clinicians, molecular geneticists and genetic counsellors who have well established expertise in their topics having made significant advancements in their respective fields.

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

You will have the option to attend in-person at our training centre in Ebenezer Street, London N1 or online.

Who should attend

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.

CPD Certification

CPD points will be applied for. A certificate of attendance will be awarded at the end of the course.


In order to join the course online, you will need access to a computer (laptop or desktop) with a webcam and microphone.

Booking your place - important, please read before booking your place

Please ensure that you add the correct item to your cart from the options below, depending on whether you wish to attend in-person or online.

In-person places are restricted by the capacity of the venue. Once these places are filled it will only be possible to attend online.

Book Now

Date Location Time Seats Price
14/09/2022 In person at The Education Hub, 15 Ebenezer Street, London, N1 7NH 30 £550.00
14/09/2022 Online - unlimited places £450.00

Course fees