About this event

  • Date and time Thu 10 Jan 2019 from 5:30pm to 10:30pm
  • Location Royal Society of Medicine
  • Organised by Ophthalmology

Further your knowledge on the diagnoses, care and role of genetic counselling for patients living with rare eye diseases, that fall under the umbrella of mitochondrial optic neuropathies. 

This meeting will provide an update and raise awareness of these mitochondrial diseases, and talk about new possible treatments.

With new therapies emerging for the treatment of rare eye diseases there is a need for accurate diagnosis and counselling of patients with these conditions. It can also be a challenge to provide care for patients when the prevalence of conditions is low.

The meeting will introduce the genetics of mitochondrial eye disease, common conditions will be described clinically, and their genetic management outlined. And finally, novel therapies for the management, and treatment will be discussed.

Both practicing and training doctors will benefit from new research findings and how these will be impacting on our day-to-day clinical practice in the future.


Topics include: 

  • Diagnoses and care of patients living with rare eye diseases
  • Emerging therapies for treatment
  • The genetics behind mitochondrial eye diseases
  • Understanding common conditions
  • How to manage rare genetic eye diseases


View the programme

Registration, tea and coffee
Welcome and introduction

Professor Marcela Votruba, Consultant Ophthalmologist, School of Optometry and Vision Sciences, Cardiff University

Introduction to genetics and mitochondrial optic neuropathies

Professor Marcela Votruba

The clinical phenotype of Leber's hereditary optic neuropathy (LHON)

Mr Fion Bremner, Consultant Neuro-Ophthalmologist, National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Foundation Trust

Managing the impact of a genetic diagnosis: The role of genetic counselling

Ms Joanne Lowndes, Principal Genetic Counsellor, Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust

Translational research: Challenges and opportunities

Dr Patrick Yu-Wai-Man, Senior Lecturer, University of Cambridge and Honorary Consultant Ophthalmologist, Moorfield Eye Hospital NHS Foundation Trust

Panel discussion
Close of meeting and online evaluations
Drinks reception




Royal Society of Medicine, 1 Wimpole St, Marylebone, London, W1G 0AE, United Kingdom