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Major malformations of the human eye, including microphthalmia and anophthalmia, are examples of phenotypes that recur in families yet often show no clear Mendelian inheritance pattern. Defining loci by mapping is therefore rarely feasible. Using a candidate-gene approach, we have identified heterozygous coding-region changes in the homeobox gene OTX2 in(More)
PURPOSE Photopic negative response (PhNR) and pattern electroretinogram (PERG) are electrophysiological markers of retinal ganglion cell function; both are reduced in glaucoma. We compared PhNR and PERG in different stages of the disease. METHODS Eleven eyes with preperimetric glaucoma (glaucomatous optic disc with normal field); 18 with manifest(More)
Hereditary retinal dystrophies (RD) constitute a group of blinding diseases that are characterized by clinical variability and pronounced genetic heterogeneity. The different forms of RD can be caused by mutations in >100 genes, including >1600 exons. Consequently, next generation sequencing (NGS) technologies are among the most promising approaches to(More)
Night vision requires signaling from rod photoreceptors to adjacent bipolar cells in the retina. Mutations in the genes NYX and GRM6, expressed in ON bipolar cells, lead to a disruption of the ON bipolar cell response. This dysfunction is present in patients with complete X-linked and autosomal-recessive congenital stationary night blindness (CSNB) and can(More)
Congenital stationary night blindness (CSNB) is a heterogeneous retinal disorder characterized by visual impairment under low light conditions. This disorder is due to a signal transmission defect from rod photoreceptors to adjacent bipolar cells in the retina. Two forms can be distinguished clinically, complete CSNB (cCSNB) or incomplete CSNB; the two(More)
PURPOSE Spontaneous venous pulsation is one of the clinical signs with which to rule out elevated intracranial pressure and papilledema. More subtle pulsatile retinal movements are difficult to observe because of eye movements. Recording a fundus movie and aligning (registering) the images helps, but the images still contain distracting microsaccadic(More)
PURPOSE Congenital stationary night blindness (CSNB) is a clinically and genetically heterogeneous retinal disease. Although electroretinographic (ERG) measurements can discriminate clinical subgroups, the identification of the underlying genetic defects has been complicated for CSNB because of genetic heterogeneity, the uncertainty about the mode of(More)
Visual electrophysiology allows non-invasive monitoring of the function of most processing stages along the visual pathway. Here, we consider which of the available methods provides the most information concerning glaucomatous optic nerve disease. The multifocal electroretinogram (ERG), although often employed, is less affected in glaucoma than two direct(More)
Isolated functional methionine synthase deficiency occurs in the cblE and cblG defects of methylcobalamin metabolism and is one of a number of causes of severely elevated plasma homocysteine. Clinical features are predominantly of a neurological nature but also include functional restriction of the visual system manifesting as loss of visual acuity and(More)
In multifocal electroretinogram recordings, the stimulus array is usually scaled with eccentricity to compensate for cone density changes. The strength of this scaling is parameterized by the so-called “stretch factor” (SF). In this study, we determined the quantitative influence of the SF striving for equal response densities over the entire stimulus area.(More)