Size of i-wave associated with presence or absence of a myopia risk genetic variant, study finds

The prevalence of short-sightedness or myopia is rising globally. A common genetic variant in the general population (near the gene GJD2) confers myopia risk, but the mechanisms are unclear.

A group of researchers led by Professor Omar Mahroo from UCL Institute of Ophthalmology, and Dr Pirro Hysi from King’s College London, conducted an analysis of electrical responses recorded from the retina in patients with specific rare conditions, using data from nearly 200 healthy volunteers within the TwinsUK cohort.

The study focused on a small electrical potential called the “i-wave”, which was first discovered over 60 years ago, but has been relatively unstudied. The researchers found that the size of the i-wave was associated with presence or absence of the myopia risk genetic variant.

These findings add further insights into the pathways driving myopia. This research builds on the team’s previous work published in the Proceedings of the National Academy of Sciences of the USA, which had been the first study to show the possible effect of this genetic variant on the retina’s response to light.
 
Other researchers who were involved in this study include former research students at the institute Jit Kai Tan and Xiaofan Jiang, as well as Shaun Leo, Professors Anthony Robson and Andrew Webster.

Links

• The Electroretinogram I-Wave, a Component Originating in the Retinal OFF-Pathway, Associates With a Myopia Genetic Risk Polymorphism

• Professor Omar Mahroo

• Professor Anthony Robson

• Professor Andrew Webster

•  Dr Pirro Hysi

• Electrical responses from human retinal cone pathways associate with a common genetic polymorphism implicated in myopia

• TwinsUK