A new mutation in enhanced S-cone syndrome
نویسندگان
چکیده
منابع مشابه
Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome.
Ten new and seventeen previously reported Enhanced S Cone Syndrome (ESCS) subjects were used to search for genetic heterogeneity. All subjects were diagnosed with ESCS on the basis of clinical, psychophysical and/or electroretinography testing using published criteria. Mutation analysis was performed on the NR2E3 nuclear receptor gene by single strand conformation analysis and direct sequencing...
متن کاملCorrection: A Hybrid Photoreceptor Expressing Both Rod and Cone Genes in a Mouse Model of Enhanced S-Cone Syndrome
Resequencing has shown that three clones used for making in situ hybridization (ISH) probes for this manuscript were initially misidentified (gene IDs from Figure 1: G17, G23, and G25). The correct identities of these clones are as follow: Glo1, Hnrpa1, and Dkk3, respectively. This finding led the authors to resynthesize and test all ten probes made in the batch which included these misidentifi...
متن کاملA Hybrid Photoreceptor Expressing Both Rod and Cone Genes in a Mouse Model of Enhanced S-Cone Syndrome
Rod and cone photoreceptors subserve vision under dim and bright light conditions, respectively. The differences in their function are thought to stem from their different gene expression patterns, morphologies, and synaptic connectivities. In this study, we have examined the photoreceptor cells of the retinal degeneration 7(rd7) mutant mouse, a model for the human enhanced S-cone syndrome (ESC...
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Enhanced S-cone syndrome (ESCS), featuring an excess number of S cones, manifests as a progressive retinal degeneration that leads to blindness. Here, through optical imaging, we identified an abnormal interface between photoreceptors and the retinal pigment epithelium (RPE) in 9 patients with ESCS. The neural retina leucine zipper transcription factor-knockout (Nrl(-/-)) mouse model demonstrat...
متن کاملEnhanced S cone syndrome: Evidence for an abnormally large number of S cones
The cellular basis of the hypersensitivity of the S (blue) cone system in patients with enhanced S cone syndrome was examined by analyzing ERGs from three patients. The patients had large alpha-waves in response to the blue and white flashes. These alpha-waves were shown to be driven nearly entirely by the S cones. Although these S cone alpha-waves were 4-6 times the size of the normal L/M cone...
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ژورنال
عنوان ژورنال: Acta Ophthalmologica
سال: 2016
ISSN: 1755-375X
DOI: 10.1111/aos.13205