Finding the genetic cause of uncontrolled eye movements in children

Overview

Infantile nystagmus is the name for uncontrolled eye movements that are present at birth or begin early in childhood. It’s linked to a wide range of genetic disorders that affect the developing eye and brain. The list includes achromatopsia, congenital stationary night blindness, early onset retinal dystrophy, albinism, microcephaly and spinocerebellar ataxia.

In order to find out the underlying cause for infantile nystagmus, children usually have to go through a long string of tests. These include eye exams, recording electrical activity generated in the light-sensitive retina at the back of the eye and measured at the skin with electrodes, recording brain waves, optical coherence tomography (OCT) and brain scans.

Many tests are inconclusive and may not even be available for young children at every clinic. It may also be a challenge to get the children to cooperate with testing.

The research team has developed a test that searches all 336 genes known to have a link to nystagmus. It’s similar to the NHS test for congenital cataract, although still at the research stage.

In this project the team will find out how well the test can find variations in known genes. They will also try to find out what the variations do. Patients with no variations in the genes they test will be referred for whole genome sequencing. Results from the study could lead to an NHS test that would help make specific treatment and advice possible for the children and their families.