The achiasmia spectrum: congenitally reduced chiasmal decussation.

ABSTRACT:

Aim

To describe the clinical spectrum of achiasmia, a congenital disorder of reduced relative decussation at the optic chiasm.

Methods

A retrospective case note and patient review of nine children (four boys). Achiasmia was defined by the combination of a characteristic asymmetry of the monocular visual evoked potential (VEP) response to flash and neuroimaging showing reduced chiasmal size.

Results

Three of the children had an associated skull base encephalocele with agenesis of the corpus callosum. In two patients achiasmia was associated with septo-optic dysplasia. Three patients had no neuroimaging abnormalities other than reduced chiasmal size and have no known pituitary dysfunction. One child had multiple physical deformities but the only brain imaging abnormalit

SUBMITTER: Sami DA 

PROVIDER: S-EPMC1772901 | biostudies-literature | 2005 Oct

REPOSITORIES: biostudies-literature