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Optometric findings in velocardiofacial syndrome

H P Abel1, D J O'Leary

  • 1School of Optometry, University of New South Wales, Sydney, Australia.

Optometry and Vision Science : Official Publication of the American Academy of Optometry
|January 10, 1998
PubMed

Insights

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.

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