Visual-evoked potential evidence of chiasmal hypoplasia.

摘要: Abstract Purpose To show that chiasmal hypoplasia or aplasia need not be an isolated developmental anomaly and to examine the spectrum of associated clinical findings explore possibility these patients may represent a phenotypic manifestation gene anomaly. Design An observational case series. Participants Five infants, between several weeks 7 months age, in whom electrophysiologic characteristic had been noted were included. Methods Flash electroretinography flash pattern visual-evoked potentials (VEPs) elicited from all patients. Clinical ophthalmologic examinations, including funduscopy, performed, magnetic resonance imaging (MRI) brain scans. Main outcome measures The occipital distribution monocular VEP response peaks was studied. symmetry lateral channel responses compared for stimulation. Results All five crossed asymmetry distribution, which is consistent with paucity fibers crossing at chiasm. MRI supported this observation, illustrating degrees variable coincidence other midline abnormalities brain. Optic disc appearances varied normal hypoplastic colobomatous. Conclusions who showed VEPs are axons similarities achiasmia humans mice due Pax2 discussed.