The CVI Genetics study
Research type
Research Study
Full title
The CVI Genetics project: a pilot study
IRAS ID
313709
Contact name
Cathy Williams
Contact email
Sponsor organisation
University of Bristol
Duration of Study in the UK
0 years, 4 months, 31 days
Research summary
Brain-related impairments of vision are collectively known as cerebral visual impairment (CVI) and are caused by malfunction of the visual pathways in the brain. CVI is frequently present in children with neurological or neurodevelopmental problems caused by bleeding or infections in the brain or with genetic syndromes affecting brain development.
We will investigate whether specific genetic variants that modify the brain’s ability to recover from bleeding or infection, are associated with a child developing CVI. Normal brain development also involves remodelling and repair of brain pathways so these variants could also potentially affect visual development in children with no past medical history. Such variants could provide targets for interventions to prevent CVI, as is already being done to prevent cerebral palsy (CP).
We will collect saliva samples from children examined in our local specialist children's vision clinic and record
whether or not they have CVI. We will analye the genetic profiles of the samples for specific gene variants. We will compare the genetic profiles for specific gene variants (called SNPs – single nucleotide polymorphisms) known to modify the brain’s response to injury between children with CVI between children with CVI and children without CVI in the clinic and children in a local healthy population-based cohort. We predict that children with SNPs leading to less efficient brain-repair process will be more likely to develop CVI, especially but not exclusively, if they have neonatal infections or illnesses involving the brain.
We will also analyze retinal images in the children who have had retinal OCT pictures, (Optical Coherence Tomography)to investigate whether these are potential biomarkers for CVI are associated with the genetic variants.From the data generated we aim to write a larger grant to investigate strategies that modify the brain’s response to injury, using CVI and/or RNFL or GCL thickness, as outcomes.
REC name
South West - Frenchay Research Ethics Committee
REC reference
25/SW/0150
Date of REC Opinion
21 Jan 2026
REC opinion
Further Information Favourable Opinion