An international team of researchers, led by the University of Leicester, UK, have identified the spectrum of genetic changes responsible for foveal hypoplasia and when they cause problems in developing babies’ eyes.
Arrested development of the fovea, or foveal hypoplasia, is rare, but this lifelong condition can have serious consequences affecting an individual’s ability to read, drive and complete other daily tasks. There are currently no treatments available for this condition, with one of the first visible signs being nystagmus in a child’s first six months.
Published in Ophthalmology, the Leicester-led study analysed 900 OCT scans from 20 international centres, categorising them by severity using the Leicester Grading System. These scans were then compared with genetic markers to identify the genes associated with varying severities of the condition. Identifying these relationships between genetic defects and the degree of arrested foveal development is the first step in building possible future treatments for individuals with foveal hypoplasia, said researchers.
