The mouth is part of the retina at the back of the human eye, and is the structure responsible for sharp, central vision. This lifelong condition can have serious consequences and can affect an individual’s ability to read, drive, and complete other daily tasks.
There is currently no treatment for this condition. Often, during infancy, one of the first noticeable signs of a family problem is ‘crossed eyes’. This is usually seen in the first six months of life. There is a huge gap in our knowledge about which genes control fovea development and at what point in development.
Now, in a study published in the journal Ophthalmology that combined data from more than 900 cases around the world, researchers have been able to identify a common genetic variation behind the nest defects. these and – importantly – at the time they occur during fetal development.
Dr Helen Kuht is a political scientist and Wellcome Trust postdoctoral fellow in the Ulverscroft Eye Unit at the University of Leicester, and the study’s first author. She speaks:
“This study has really helped to answer the question of why some infants with these genetic changes present with varying severity of orbital hypoplasia. So allowing them to I diagnose, predict future vision, and help prioritize genetic testing, counseling and follow-up support.”
Dr Mervyn Thomas is the NIHR Academic Clinical Lecturer in Ophthalmology and Genomic Medicine at the University of Leicester and University Hospitals Leicester NHS Trust. Previously, he pioneered a worldwide standard for grading the severity of hypoplasia known as the Leicester Scoring System. Dr. Thomas, lead author of this study, added:
“Most previous studies in this area were limited to one or two centers, so it is difficult to draw meaningful conclusions in rare disorders such as hypopalsy. With this study, we have It is possible to combine datasets from major global collaboration centers.
“We are incredibly grateful to all of our collaborators who have supported this effort and the donors in each country for making this possible. This has helped to understand how these genes influence How the offspring’s development and how well the offspring’s development is captured is based on the genetic defect.”
Captured orbital growths are detected with a special camera, called optical coherence tomography (OCT), which can scan the back of the eye. The researchers used OCT scans to locate the fovea, a small pit about 2mm in diameter.
These scans were then analyzed to grade the severity of each individual case using the Leicester Scoring System and compared with genetic markers to identify other severity-related genes. of this situation.
Identifying the relationships between genetic defects and the extent of crown growth is the first step in developing possible future treatments for individuals with stromal hypoplasia. .
Leicester established the Foveal Development Investigation Group (FDIG) in 2020, bringing together foveal’s development research expertise across 11 countries. These include centers in the UK, Korea, Denmark, the Netherlands, the US, China, France, Australia, Germany, Brazil and India.
Dr. Brian Brooks is Senior Investigator at the National Eye Institute, branch director of ophthalmic genetics and visual function, and co-author of this study. He added:
“Dr. Kuht and Dr. Thomas have assembled the world’s largest group of investigators interested in the causes of hypoplasia. Their work represents the best cross-sectional data we have available on genetics. of this state to date.”
‘Genotypic and phenotypic spectrum of choroidal hypoplasia: A multicenter study’ published in the Journal of Ophthalmology.
The study was funded by the UK Medical Research Council, Fight for Sight, Nystagmus Network, Ulverscroft Foundation, Wellcome Trust, Korea Centers for Disease Control and Prevention, and the National Research Foundation of Korea.