title: An unusual X-linked retinoschisis phenotype and biochemical characterization of the W112C RS1 mutation.
abstract: 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.
authors.affiliation: Hamilton Eye Institute, Department of Ophthalmology, University of Tennessee Health Science Center, 930 Madison Avenue, Suite 731, Memphis, TN 38163, USA. iannacca@utmem.edu
authors.forename: Alessandro
authors.initials: A
authors.lastname: Iannaccone
authors.forename: Marco
authors.initials: M
authors.lastname: Mura
authors.forename: Frank M
authors.initials: FM
authors.lastname: Dyka
authors.forename: Maria Laura
authors.initials: ML
authors.lastname: Ciccarelli
authors.forename: Beverly M
authors.initials: BM
authors.lastname: Yashar
authors.forename: Radha
authors.initials: R
authors.lastname: Ayyagari
authors.forename: Monica M
authors.initials: MM
authors.lastname: Jablonski
authors.forename: Robert S
authors.initials: RS
authors.lastname: Molday
mesh_terms: D002478:Cells, Cultured; D004596:Electroretinography / Q000379:methods; D005136:Eye Proteins / Q000235:genetics*; D005451:Fluorescein Angiography / Q000379:methods; D050172:Genes, X-Linked / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense / Q000235:genetics; D010641:Phenotype; D012160:Retina / Q000473:pathology / Q000503:physiopathology; D041441:Retinoschisis / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology
chemical_list: D005136:Eye Proteins; C108726:RS1 protein, human