University of Leicester scientists lead research on the fovea
An international team of researchers has published new insight on how genetic defects result in arrested development of the fovea
23 May 2022
A new study has provided insight on how genetic mutations influence the development of the fovea.
The research, which was published in Ophthalmology, involved a team of experts from 20 different centres and was led by scientists from the University of Leicester.
Foveal hypoplasia, which is often caused by genetic changes, can affect a patient’s ability to read, drive and complete other routine tasks.
The study combined data from 900 cases internationally to identify the spectrum of genetic changes that led to these defects in the fovea.
Researchers used optical coherence tomography (OCT) scans to identify the location of the fovea.
These scans were analysed and the severity of each case was graded using the Leicester Grading System.
This information was correlated with genetic markers in order to identify the genes linked to different levels of disease severity.
Study author, Dr Helen Kuht, of the University of Leicester, explained that the research helps scientists to understand why infants with genetic changes present with varying degrees of foveal hypoplasia.
This could result in improved diagnosis, prediction of future vision as well as prioritising genetic testing, subsequent counselling and support.