Visual function subtyping in children with early-onset cerebral visual impairment

Area of Science:

• Ophthalmology
• Neuroscience
• Pediatrics

Background:

• Childhood cerebral visual impairment (CVI) is a leading cause of vision impairment in children.
• Current diagnostic approaches for CVI often lack detailed functional vision profiling.
• Developing data-driven subgrouping methods is crucial for understanding CVI heterogeneity.

Purpose of the Study:

• To develop and validate a data-driven method for identifying and profiling subtypes of early-onset CVI.
• To establish a novel classification system for CVI based on distinct vision function deficits.
• To investigate the relationship between vision deficits and co-occurring neurodevelopmental and ophthalmological conditions.

Main Methods:

• Recruited 63 children with suspected or diagnosed congenital CVI.
• Assessed cognitive, basic, and higher-order vision functions, quality of life, and functional vision.
• Employed cluster analysis and statistical methods for subgroup identification and validation.

Main Results:

• Cluster analysis revealed three distinct subgroups of CVI based on vision function deficits and severity.
• Group A1 (n=15) exhibited selective visual perception and visuomotor deficits.
• Group A2 (n=28) presented with more severe, broader deficits and variable visual acuity.
• Group B (n=20) showed significant visual acuity reduction and was differentiated from Group A.
• Significant co-occurring ophthalmological and motor impairments varied across the three groups.
• All groups reported reduced quality of life and functional vision.

Conclusions:

• The data-driven subgrouping method successfully identified three distinct CVI subtypes.
• These subgroups demonstrate a gradient of severity in vision function deficits.
• The identified subgroups provide a foundation for a novel CVI classification system.
• Co-occurring cognitive and neurodevelopmental deficits mirrored the severity gradient observed in vision impairments.