Title: Deep phenotyping, pitfalls in pivotal trials and precision genetics

A/Prof Fred Chen

Meeting:  2023 RANZCO


Date: 21 Oct 2023


Session Time: 11:30 am - 12:00 pm

Synopsis: Multimodal retinal imaging is now the standard of care for retinal diagnostics and management. Cases will be presented to illustrate the essential role multimodal imaging plays in the work-up of complex clinical scenarios. The use of artificial intelligence, through incorporating large data sets from research and clinical care settings for deep learning, is now gaining momentum. Although issues with implementation remain, potential solutions are on the horizon.
New agents for the treatment of neovascular age-related macular degeneration and geographic atrophy have now been approved by the major regulatory agencies for routine clinical care. Do we know enough, however, about the efficacy of these therapies to embrace them? Do these new treatments, lacking long term safety data, offer significant gains over our current armamentarium? For geographic atrophy, is there sufficient trial data to support the widespread use of complement inhibitors? New methods of drug delivery for age-related macular degeneration, diabetic macular oedema and macular telangiectasia type 2 will be covered.
Our surgical and medical retinal subspecialities are now being transformed by a tidal wave of rapid advances in precision medicine. Molecular diagnostics is gaining traction for accurate diagnosis and prognosis within the fields of ocular oncology and inherited retinal diseases. This technology, however, is not infallible. Understanding the pitfalls is important given the development of personalised gene therapy. This emergence of molecular medicine will be illustrated by the utility of circulating tumour DNA in the management of choroidal melanoma and the Australian led development of antisense therapy for Retinitis Pigmentosa type 11.