Can neuroprotective strategies reduced cerebral visual impairment (CVI)?

 - a pilot study into genetic susceptibility to CVI

Summary

Brain-related impairments of vision are collectively known as cerebral visual impairment (CVI). CVI is frequently present in children or adults with neurological or neurodevelopmental problems such as bleeding or infections in the brain. CVI is currently diagnosed clinically, but the thickness of the retinal nerve fibre layer (RNFL) is a potential biomarker which would add to diagnostic precision.

We will investigate whether specific genetic variants that modify the brain's ability to respond to damage are associated with a child developing CVI. Such variants could provide targets for interventions to prevent CVI, as is already being done to prevent cerebral palsy (CP). CVI occurs more frequently than CP, so might provide a more sensitive outcome measure for trials of new treatments that modify a baby's genetically-determined response to brain injury.

We will collect genetic samples from children diagnosed with CVI. We will compare the children's genetic profiles for specific gene variants (called SNPs - single nucleotide polymorphisms) known to modify the brain's response to injury, with those in the local ALSPAC population-based cohort as a reference. We will also measure RNFL thickness in the children, using a child-friendly non-contact scanner for which we have data from healthy children without CVI to use as a reference. We will analyse existing ALSPAC data, comparing visual function data with genotype for the SNPs of interest. We will then be able write a larger grant to investigate the effectiveness of strategies that modify the brain's response to injury, using CVI and/or RNFL, as outcomes.