PURPOSE To describe in detail cases with an initial diagnosis of Leber congenital amaurosis that were later found to have a hemizygous mutation in the CACNA1F gene. METHODS The patients underwent a detailed ophthalmological evaluation and full-field electroretinography (ERG). Selective targeted capture and whole-exome next-generation sequencing (NGS) were used to find the disease-causing muta...

Ten patients with the incomplete type of congenital stationary night blindness (CSNB) were examined with a 30 Hz flicker electroretinogram (ERG). After 30 min of dark adaptation, 30 Hz flicker ERG was recorded continuously for 12-15 min under white background illumination. All patients showed an exaggerated increase of amplitude and a universal characteristic change of wave shape as the light a...

CASE REPORT We describe ocular findings due to a vitamin A deficiency in a 50-year-old man. The patient had undergone intestinal bypass surgery two years before. After therapy with oral vitamin A the symptoms improved. DISCUSSION The incidence of morbid obesity is increasing throughout much of the developed world, with intestinal bypass surgery the treatment of choice for most people with the...

Two brothers are described with a similar physical appearance characterised by minor periorbital anomalies, malar flatness, a maxillary overbite, retrognathia, sloping shoulders, joint hyperextensibility, and minor radiological anomalies. In addition, they had a slowly progressing night blindness, myopia, and extinguished electroretinograms. The mother had mild expression of some of the physica...

AIM To analyse nystagmus characteristics in patients with congenital stationary night blindness (CSNB) for differentiation from other forms of early childhood nystagmus. METHODS Horizontal and vertical eye movements of 10 patients (6-46 years, mean 17.1 years, median 12.5 years) with CSNB (eight with CSNB1, two with CSNB2) were recorded with the scleral magnetic search coil technique or by el...