How polygenes affect vision development and cause rare vision impairment

Researchers from the University of Leicester have led an international study of 20 specialist centres, the largest of its kind to date, looking at genes linked to foveal developmental arrest

The fovea, part of the retina at the back of the human eye, is the structure responsible for clear central vision

There is currently no cure for the disease

Now, in a study published in the journal Ophthalmology, researchers combining data from more than 900 cases around the world have been able to identify the spectrum of genetic changes behind these foveal defects and, crucially, they Occurs during the development of an unborn baby

Dr Helen Coote, a research orthopaedic surgeon and a postdoctoral fellow at the Ulverscroft Department of Ophthalmology at the University of Leicester, UK, is the lead author of the study

"This study really helps solve the mystery of why some infants with these genetic changes develop varying degrees of foveal hypoplasia

Dr Mervyn Thomas is an Academic Clinical Lecturer in Ophthalmology and Genomic Medicine at the National Institutes of Health, UK, teaching at the University of Leicester and Leicester University Hospitals NHS Trust

"Most previous research in this area has been limited to one or two centers, making it difficult to draw meaningful conclusions about a rare disease like foveal hypoplasia

"We are very grateful to all the collaborators who came to support this effort, and the funders in each country who made this possible

Foveal developmental arrest is detected with a special camera called optical coherence tomography (OCT), which scans the back of the eye

These scans were then analyzed to classify the severity of each case using the Leicester Grading System and compared to genetic markers to identify genes associated with disease of varying severity

Determining the relationship between genetic defects and the degree of foveal developmental arrest is the first step in establishing possible future treatments for individuals with foveal hypoplasia

The University of Leicester launched the Foveal Development Investigation Group (FDIG) in 2020, bringing together the expertise of foveal development research across 11 countries

Brian Brooks, PhD, is a senior investigator at the National Eye Institute and director of the Division of Ophthalmology Genetics and Visual Function, and a co-author of the study

Now we have established the world's largest research group to study the causes of foveal hypoplasia

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Genotypic and Phenotypic Spectrum of Foveal Hypoplasia .
Ophthalmology , 2022