An unusual X-linked retinoschisis phenotype and biochemical characterization of the W112C RS1 mutation
| Autor: | Monica M. Jablonski, Beverly M. Yashar, Maria Laura Ciccarelli, Marco Mura, Radha Ayyagari, Alessandro Iannaccone, Frank M. Dyka, Robert S. Molday |
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| Přispěvatelé: | Other Research, Ophthalmology |
| Jazyk: | angličtina |
| Rok vydání: | 2006 |
| Předmět: |
Male
Tapetal-like reflex genetic structures Retinoschisis Electroretinogram (ERG) Mutant Mutation Missense Biology medicine.disease_cause Retina NO Genes X-Linked Genetics Electroretinography medicine Humans Epigenetics Bipolar cell Fluorescein Angiography Eye Proteins Cells Cultured Mutation medicine.diagnostic_test Middle Aged medicine.disease Phenotype Sensory Systems eye diseases Ophthalmology RETINOSCHISIN Neuroscience Erg |
| Zdroj: | Università degli studi di Ferrara-IRIS Vision research, 46(22), 3845-3852. Elsevier Limited |
| ISSN: | 0042-6989 |
| Popis: | A 52-year-old subject harboring an RS1 gene W112C mutation presented with a prominent and asymmetric tapetal-like retinal sheen. Transient ERG responses were smaller and slower in the eye with the more extensive sheen, an association that, to our knowledge, had not been previously reported. An ON-pathway dysfunction explained the abnormalities of the transient but not those of the flicker ERGs. Although in vitro studies showed that the W112C mutant retinoschisin is present only in the cellular fraction and is not secreted, disease expression was remarkably mild, consistent with the notion of the existence of genetic and/or epigenetic disease modifiers. |
| Databáze: | OpenAIRE |
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