“Eye genetics at the fork in the road” 2017 Franceschetti Lecture, Leeds UK

ABSTRACT

Inherited retinal diseases – a disparate group of eye disorders with over 200 known genetic causes – are now the leading cause of blindness in working-age adults in developed countries. Until recently there was no cure for genetic eye diseases. After over a century of defining inherited retinal diseases with their phenotypes, and then several decades of discovering associated genes and their mutations, we now have gene therapy, stem cell therapy, predictive DNA testing and a revolution in adaptive computer technology. With the explosion of expensive treatment options, we need to consider whether finite resources should go towards treatment, prevention or rehabilitation or an amalgamation of all three. In addition, although evidence-based medicine is the goal, how do we direct our desperate patients towards genuine clinical trials and away from quackery? How do we provide scientifically valid treatments for eye diseases too rare to run proper trials and then capture the results of “off label treatments”?

KEYWORDS:

• Leber Hereditary Optic Neuropathy
• leber Congenital Amaurosis
• retinitis Pigmentosa
• inherited retinal disease

Acknowledgments

I am grateful to my patients, their families, my teachers and colleagues who have taught me so much about genetic eye disease. I thank Lisa Kearns for her assistance in researching and caring for patients and families with LHON.

This lecture was recorded at the Joint ISGEDR/UK-EGG Meeting in Leeds Fri 15 Sept 2017 and is available at https://isgedr.com/2017-leeds-day-2/#screencasts201701

Declaration of interest

The author reports no conflict of interest. The author alone is responsible for the content and writing of this article.

Additional information

Funding

DM is supported by an NHMRC practitioner fellowship. DM was awarded the Kevin Bell Churchill Fellowship to evaluate recruitment, treatment and monitoring of patients having gene therapy for Inherited Retinal Diseases – UK in 2015. https://www.churchilltrust.com.au/fellows/detail/4044/David+Mackey%20AONational Health and Medical Research Council1154518];Winston Churchill Memorial Trust[Kevin Bell Winston Churchill Fellowship];