SK Sikkink, S Biswas, NRA Parry, PE Stanga, … - British Medical Journal, 2007 - jmg.bmj.com X-linked retinoschisis is the leading cause of macular degeneration in males and
leads to splitting within the inner retinal layers leading to visual
deterioration. Many missense and protein truncating mutations have now been ... Cited by 17 - Related articles - BL Direct - All 5 versions
- ►iovs.org S Kjellstrom, RA Bush, Y Zeng, Y Takada, PA … - Investigative ophthalmology & visual science, 2007 - ARVO RESULTS. The outer nuclear layer (ONL) of 1-month-old Rs1h-KO mice was
disorganized but had nearly normal cell counts. The OSL was thinned, rod outer
segments were misaligned, and abundant schisis cavities spanned the inner ... Cited by 12 - Related articles - BL Direct - All 5 versions
- ►iovs.org FM Dyka, RS Molday - Investigative ophthalmology & visual science, 2007 - ARVO PURPOSE. X-linked retinoschisis (XLRS) is an early-onset retinal disease caused
by mutations in retinoschisin (RS1), a multisubunit, extracellular protein
implicated in retinal cell adhesion. Delivery of the normal RS1 gene to ... Cited by 5 - Related articles - BL Direct - All 3 versions
- ►aravind.org [PDF] D Shukla, A Rajendran, D Gibbs, B … - American Journal of Ophthalmology, 2007 - Elsevier The mean patient age was 16.4 years (range, two to 33 years). Family history was
positive in seven patients. Four demonstrated atypical fundus findings of XLR
bilaterally. Atypical features included macular dragging and distortion ... Cited by 5 - Related articles - All 16 versions
B Lesch, V Szabó, M Kánya, GM Somfai, R … - Molecular Vision, 2008 - pubmedcentral.nih.gov This study included 72 members in 13 families. Complete ophthalmological
examinations, including optical coherence tomography (OCT) and full-field and
multifocal electroretinography (ERG), were performed on 20 affected males, ... Cited by 1 - Related articles - All 4 versions
TK Park, Z Wu, S Kjellstrom, Y Zeng, RA Bush, … - Gene Therapy, 2009 - nature.com X-linked juvenile retinoschisis (XLRS) is a neurodevelopmental abnormality
caused by retinoschisin gene mutations. XLRS is characterized by splitting
through the retinal layers and impaired synaptic transmission of visual ... Cited by 2 - Related articles - All 3 versions
- ►nih.gov S Ishiko, A Yoshida, Y Kato, H Kagokawa - British Journal of Ophthalmology, 2006 - bjo.bmj.com Neurofibromatosis 1, a common inherited disorder, 1 is considered a
neurocristopathy characterised by pathological hamartomatous proliferations of
neural crest derived tissues. 1, 2 Neurofibromatosis can be observed in any ... Related articles - All 6 versions
C Vijayasarathy, L Ziccardi, Y Zeng, N … - Investigative Ophthalmology & Visual Science, 2009 - ARVO Page 1. Vijayasarathy, et al.: RS1 c354del1-ins18 Mutation Causes Progressive
XLRS 1 Null Retinoschisin-Protein Expression from an ... Related articles - All 2 versions