First NIHR Moorfields Eye Charity partnership fellowship awarded 

This is the first Moorfields Eye Charity Advanced Fellowship in partnership with the National Institute for Health Research (NIHR) and we’re delighted to award it to Dr Yu Wai Man. Our established partnership with the NIHR reinforces our commitment to the training and development of current and future leaders in eye health.

Inherited optic neuropathies are genetic diseases that damage the optic nerve – the specialised cable that sends visual information from the eye to the brain. They can result in severe loss of vision and blindness in children and young adults. Although a large number of genetic defects (mutations) can cause inherited optic neuropathies, the damage caused to the optic nerve is invariably due to impaired function of mitochondria, which are the powerhouses producing all the energy that a cell needs to survive. 

The two most common inherited optic neuropathies are Leber hereditary optic neuropathy (LHON) and autosomal dominant optic atrophy (DOA).

The management of patients with inherited optic neuropathies remains challenging as there are limited treatment options to slow or prevent ongoing loss of vision.

This situation is further complicated by major gaps in our understanding of how the disease progresses over time and how best to measure the significant visual impairment that patients face in their day-to-day lives. 

Dr Yu Wai Man and colleagues have successfully used a gene therapy product to replace the defective gene that causes LHON in patients carrying a specific mutation. Results so far show that those who were treated within 1 year of being affected experienced significant improvement in their vision. These results were published in Science translational medicine.

Fortunately therefore, important progress is being made but there are still many questions to address.

Dr Patrick Yu Wai Man is an academic ophthalmologist at the University of Cambridge, affiliated with the Cambridge Centre for Brain Repair and the MRC Mitochondrial Biology Unit. He also has joint clinical appointments at Moorfields Eye Hospital in London and Addenbrooke’s Hospital in Cambridge as an honorary consultant neuro-ophthalmologist with a subspecialist interest in mitochondrial eye disorders. 

He is building an international profile in neuro-ophthalmology and is establishing himself as a leading clinical academic working on inherited optic neuropathies in the UK. Part of this includes building a national referral network for the investigation and management of patients with inherited optic neuropathies.

With his Advanced Fellowship, Patrick will tackle some of the unanswered questions in LHON and DOA.

Dr Yu Wai Man wants to find answers to the difficult questions that patients and their families ask in clinic, and ultimately, contribute to the development of effective treatments for inherited optic neuropathies, which are invariably progressive, irreversible and a leading cause of blindness in children and young adults. 

The challenging nature of these objectives continues to drive the major aspects of his research work and an NIHR Moorfields Eye Charity Advanced Fellowship will provide him with the time and resources to accelerate his career development and research programme.

The overarching aim of Dr Yu Wai Man’s Advanced Fellowship is to improve the management of patients with LHON and DOA and fast-track the delivery of effective treatments. The data generated will tell us how these diseases progress over time and the factors that predict the visual prognosis – crucial information that can be relayed to patients and their families in clinic. 

Looking into the future, a validated PROM for the inherited optic neuropathies will provide a useful set of outcome measures to assess quality of life and justify the cost-effectiveness of new treatments.