Reducing the diagnostic burden in children with cerebral visual impairment by integrating birth-related, functional, and structural outcomes
Reducing the diagnostic burden in children with cerebral visual impairment by integrating birth-related, functional, and structural outcomes
CVI is a leading cause of childhood visual impairment. Diagnosing CVI is difficult because no single test can confirm it; clinicians rely on multiple assessments and multidisciplinary input. This thesis of Jannet Philip aims to improve diagnosis by linking birth history, visual function, and eye structure to reduce the need for extensive testing.
Chapter 2 of this thesis shows that birth-related factors such as prematurity, high birth weight, and birth defects can affect vision even into adulthood. Chapters 3 and 4 of this thesis identified distinct CVI subtypes based on patterns of visual function, helping to better understand individual differences and guide personalized care. The tests measured visual acuity, contrast sensitivity, crowding, ocular alignment, eye movements (using an eye tracker), visual perception, visual field, and retinal and optic nerve layer thickness. These subtypes possibly help clinicians understand which visual functions are most affected in each child and can guide more personalized interventions.
Chapter 5 revealed that brain damage in CVI is reflected in structural changes in the retina and optic nerve, particularly thinning of the retinal nerve fibre layer and ganglion cell layers that correspond to visual field deficits. These results provide clear evidence that brain damage in CVI can be detected through changes in the retina, making OCT a valuable tool in supporting the diagnostic process.
Overall, combining birth data, functional assessments, and retinal imaging can make CVI diagnosis more accurate and efficient, reducing the burden on families and enabling more targeted support for affected children.