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Optometric findings in velocardiofacial syndrome
1School of Optometry, University of New South Wales, Sydney, Australia.
Summary
Velocardiofacial syndrome (VCFS) is a genetic condition often causing learning difficulties. Optometry clinics can identify VCFS-related vision issues, potentially improving learning challenges through vision management.
Area of Science:
- Ophthalmology
- Genetics
- Developmental Pediatrics
Background:
- Velocardiofacial syndrome (VCFS) is a congenital genetic disorder characterized by skeletal, cardiac, and facial anomalies.
- Children with VCFS frequently experience learning difficulties, even with normal or above-average intelligence.
Purpose of the Study:
- To investigate the ocular characteristics of children diagnosed with VCFS.
- To explore the potential role of optometric intervention in managing learning problems associated with VCFS.
Main Methods:
- Examination of 10 children with a confirmed diagnosis of VCFS.
- Assessment of refractive error (hyperopia), accommodative function, and convergence.
- Ophthalmoscopic evaluation for retinal vascular anomalies.
Main Results:
- All examined children exhibited mild to moderate hyperopia.
- Most participants demonstrated impaired accommodation and poor convergence.
- Approximately 30% of the children presented with tortuous retinal vessels.
Conclusions:
- Ocular abnormalities, including hyperopia and visual-motor deficits, are common in VCFS.
- The optometry clinic is a potential setting for early VCFS detection.
- Optometric management may offer a strategy to mitigate learning challenges in affected children.