ANOMALIES OF GENETIC DEVELOPMENT AS PREDICTORS OF OCULO-VISUAL ABNORMALITIES IN VELO-CARDIO-FACIAL SYNDROME

Background. Subjects with velo-cardio-facial syndrome (VCFS) were asse ssed to determine whether the learning disabilities (LDs) characterizi ng the syndrome are compounded by visual function deficits, which woul d be predicted on the basis of the proposed embryonic derivation of th e genetic anomaly. Methods. Twelve subjects diagnosed with VCFS underw ent a vision screening with emphasis on binocular function. Results. S ubjects exhibited deficits in accommodation (N = 5), convergence (N = 7), fusional reserves (N = 9), and stereopsis (N = 10). Three patients were strabismic at near. No patient was in the clinically normal rang e for all tests of binocular function. Conclusions. Individuals with V CFS have a chromosome 22 deficit thought to alter the migration of neu ral crest (NC) cells, which are the embryonic precursors of the autono mic innervation of the smooth muscle components of the eye and of cran ial nerves III, IV, and VI, It was predicted that VCFS patients would demonstrate reduced accommodation and convergence flexibility, which w ould reduce visual comfort for near work. The pathological etiology of the visual anomalies suggests that if visual training is not successf ul, these patients should be provided with a suitable optical reading correction from an early age.