Large-scale genetic analysis of hereditary eye diseases, including RP

Future clinical and genetic trials could benefit from an Argentinian study of 600 families and 770 patients with hereditary eye diseases. The year-long study culminated in a peer-reviewed manuscript informed by experts, including Fight for Sight funded researcher Dr Gavin Arno, with additional help from Professor Omar Mahroo, Professor Michel Michaelides and Dr Malena Varela, all based at Moorfields Eye Hospital.

Researchers detected a genetic, clinical diagnosis in 59% of the families tested, a similar percentage to UK and Spanish studies, despite 98% of the cohort having an inherited retinal disease. The project's goals included exploring ways of improving genetic counselling, estimating prognosis and informing people about potential risks.

Retinitis Pigmentosa is the most common inherited condition

The Argentinian study found that retinitis pigmentosa (RP) was the commonest inherited eye condition amongst the cohort.

It affects one in 4,000 people in the UK.

Retinitis pigmentosa describes a group of closely related inherited eye conditions that affect the retina. A person’s sight loss usually happens gradually, over many years – and sometimes eventually leads to registered blindness.

Tackling inherited retinal diseases

We funded the UK Inherited Retinal Dystrophy Consortium (UKIRDC) Project with Retina UK, which brought together the four largest research groups specialising in inherited retinal diseases. The four centres are The University of Leeds, London’s UCL Institute of Ophthalmology, Manchester Royal Eye Hospital and Oxford University Eye Hospital.

Since the UKIRDC launched in 2014, the group has reached many milestones, including joining the Genetics England Clinical Interpretation Partnership and identifying seven novel disease causing genes.

• Find out more about the debt eye research owes to Genomics

In 2022, a discovery made as part of research into the genetic causes behind retinitis pigmentosa led to a prestigious award of $2.5 million.

Professor Alison Hardcastle, lead investigator on the UK Inherited Retinal Disease Consortium (UKIRDC) project, and her team have secured the highest funding pot available in a competitive grant programme from US-based Foundation Fighting Blindness.

The funding will enable scientists to build on their discovery identifying the genetic cause behind a particular type of retinitis pigmentosa, RP17.