Researchers Identify How Multiple Genes Impact Vision Development

An international team of health researchers has, for the first time, described how genetic defects influence the spectrum of vision development and cause problems in developing babies’ eyes.

Researchers from the University of Leicester led an international effort consisting of 20 expert centers in the largest study of its kind to date, examining the genes associated with arrested development of the fovea.

The fovea is part of the retina at the back of the human eye, and is the structure responsible for sharp, central vision. Arrested development of the fovea, or foveal hypoplasia, is rare and is often caused by genetic changes. This lifelong condition can have serious consequences and can affect the individual’s ability to read, drive and complete other daily tasks.

There are currently no treatments available for this condition. Most often, during infancy, one of the first visible signs of a foveal problem is ‘wobbly eyes’. This is often seen in the first six months of life. There are large gaps in our knowledge about which genes control the development of the fovea and at what time points during development, this occurs.

Now, in a study published in the journal Ophthalmology combining data from more than 900 cases across the world, researchers have been able to identify the spectrum of genetic changes behind these foveal defects and – crucially – at which point they occur in the development of the unborn baby.