New insight on genetics of retinitis pigmentosa

An international research team has published new insight on the genetics of retinitis pigmentosa in The American Journal of Human Genetics.

The study, which was led by researchers from University College London, the University of Manchester and Greenwood Genetic Center in the US, found that faults in a gene that can cause childhood metabolic illness can also cause retinitis pigmentosa.

The researchers identified 14 patients with retinitis pigmentosa caused by faults in the IDUA gene – which is normally associated with mucopolysaccharidosis type 1.

The rare condition can cause severe physical disability, heart problems, skeletal abnormalities and shortened life expectancy.

Among the study cohort, several patients with retinitis pigmentosa linked to the IDUA gene showed no sign of the metabolic condition – despite comprehensive medical assessments.

The researchers concluded that these results suggest some people with retinitis pigmentosa may have an extremely mild form of metabolic disease that has gone unrecognised.

Lead author, Dr Siying Lin, began the research at the UCL Institute of Ophthalmology before moving to the University of Manchester.

“This study shows that the same gene can cause dramatically different disease outcomes, depending on how much of its related enzyme activity remains,” she explained.

“In some patients we found almost no evidence of the devastating multisystem disorder typically associated with IDUA – their disease appeared confined to the retina, the mildest presentation we’ve seen to date,” Lin highlighted.

Lin shared her hope that the research will help clinicians to identify previously unrecognised cases of IDUA-related disease – and pave the way for future treatments that preserve vision before irreversible damage occurs.