Kabuki syndrome

Fundus examination (FO) is one of the routine tests performed in an ophthalmology clinic that allows the visualization of any defects inside the eye, particularly at the retinal level. It usually requires prior dilation of the pupils for better visualization. 

The electroretinogram (ERG) is a test performed by the ophthalmologist to assess retinal function. To conduct it, one or more electrodes are placed around the eyes and one in contact with them (either a contact lens type or a wire). The patient is then asked to look at a lamp that emits flashes of light. It is not a painful procedure, but children may become scared, and sometimes it needs to be done under anesthesia. 

Visual evoked potentials (VEP) is a test that can be performed by neurophysiologists (the doctors who conduct electroencephalograms) or ophthalmologists. It involves placing electrodes on the scalp (similar to an electroencephalogram) and asking the patient to focus on a lamp emitting light flashes or on a monitor displaying a pattern of black and white squares (like a chessboard). This technique helps determine whether the electrical impulses traveling from our eyes to the visual cortex are transmitted correctly. It is primarily used to detect lesions in the anterior part of the visual pathway (in the optic nerve or chiasm).