An unusual X-linked retinoschisis phenotype and biochemical characterization of the W112C RS1 mutation.
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.
Iannaccone
Alessandro
A
Hamilton Eye Institute, Department of Ophthalmology, University of Tennessee Health Science Center, 930 Madison Avenue, Suite 731, Memphis, TN 38163, USA. iannacca@utmem.edu
Mura
Marco
M
Dyka
Frank M
FM
Ciccarelli
Maria Laura
ML
Yashar
Beverly M
BM
Ayyagari
Radha
R
Jablonski
Monica M
MM
Molday
Robert S
RS
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
D005136:Eye Proteins; C108726:RS1 protein, human