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

The course will take place live online on Zoom.

Please click here to view the programme.

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

The course carries 7 CPD learning hours/points with The CPD Certification Service.


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

Next course date

To be notified of the next course date please join the waiting list.

Start Date
Duration One day

Course fees



Taught by


Mariya Moosajee

Professor Mariya Moosajee is a clinician scientist, she is a Consultant Ophthalmologist in Genetic Eye Disease at Moorfields Eye Hospital and Great Ormond Street Hospital for Children, Professor of Molecular Ophthalmology at UCL Institute of Ophthalmology, and Group Leader of Ocular Genomics and Therapeutics at the Francis Crick Institute in London. She graduated with First Class Honours in Biochemistry and Molecular Genetics in 2000, Medicine (MBBS) in 2003, and was awarded her PhD in Molecular Ophthalmology in 2009 all from Imperial College London. She has been awarded over 30 international and national prizes for her research and has over 100 peer-reviewed scientific publications. She has been named in top 100 most influential people in ophthalmology in The Ophthalmologist Power List 2022, top most influential female figures in 2021 and in the top 10 Champions for Change in 2019. Her clinical focus is providing a genomic ophthalmology service for children and adults affected with pan-ocular genetic eye disease. Her clinical research involves deep phenotyping and natural history studies on molecularly confirmed rare disease patient cohorts, including Usher syndrome, to understand disease progression and define outcome metrics for clinical trials. In the laboratory, she is advancing our understanding of the molecular basis of ocular maldevelopment and inherited retinal dystrophies, using zebrafish disease models and human induced pluripotent stem cell derived retinal organoids. This permits the identification of potential therapeutic targets for development of treatment strategies, including small molecule drugs and non-viral gene therapy for USH2A retinopathy. Professor Moosajee is the President of the UK Eye Genetics Group, Research Lead for the Education Committee and elected member of the Academic Committee of the Royal College of Ophthalmologists, and President of Women in Vision UK.