Large scale genetic analysis of 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 most common inherited eye condition amongst the cohort.

It affects 1 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.