OBJECTIVE To describe retinal and optic disc atrophy and a progressive decrease of visual function in 2 Japanese brothers. Both had a mutation in the CACNA1F gene, the causative gene of incomplete congenital stationary night blindness (CSNB). METHODS We studied observational case reports and performed comprehensive ophthalmologic examinations including best-corrected visual acuity, biomicrosc...

A 7-year-old Japanese girl displayed multiple, variably sized, sharply circumscribed, placoid, white lesions in both eyes, with no additional symptoms. The appearance of these lesions was consistent with congenital grouped albinotic spots of the retina. Fundus autofluorescence imaging showed clearly-defined abnormal autofluorescence, corresponding to these albinotic spots. The outer retinal lay...

Visual function is usually considered to be normal in papilledema. We report previously undescribed abnormalities in the electroretinograms (ERG) and visual evoked potentials (VEP) of two patients with chronic papilledema. The steady-state latencies of the ERG and VEP were calculated using time-difference analysis. The ERG was abnormal under both scotopic (slow) and photopic (fast) flicker cond...