The Eye In CHARGE: structural/sensorial deficit

...The Eye in CHARGE

Structural & Sensorial Deficit Association With Visual Functioning

APSEA functional vision assessment was possible in 6/8 patients
83% did not attend to distant objects
50% had difficulty maintaining eye contact
83% brought objects close to their face to view them and 66% showed little interest in objects located superiorly
16% of patients had difficulty scanning an object
visual deficits good indication of functional ability
patients wtih least visual deficity performed the greatest number of opththalmologic, orthoptic, electrodiagnositcic, neurologic and APSEA tests--they had greater then 6/60 vision in at least one eye no optic nerve involement if coloboma present (37%)
Greatest impaired where little testing was possible typically had extensive bilaeral chorioretinal colobomas involving ON OU (37%)

Conclusion

frequent findings are bilateral VIII, VII, I nerve and isolated RIO involvement
bilateral chorioretinal coloboma is a frequent feature
astigmatism and anisometropia are common
strabismus and amblyopia is a common feature
further longitudinal studies are needed to answer our final two questions:

1. Are some of the performance on visual function tests neurologic in nature as opposed to related to visual deficits

2. What behavioral characteristics of CHARGE syndrome are related to visual function

Conclusion

It is clear that early recognition and managment of sensory problems (visual and auditory) is crucial in order to ensure the best psychomotor development.