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The gene Prph2 encodes a photoreceptor-specific membrane glycoprotein, peripherin-2 (also known as peripherin/rds), which is inserted into the rims of photoreceptor outer segment discs in a complex with rom-1 (ref. 2). The complex is necessary for the stabilization of the discs, which are renewed constantly throughout life, and which contain the visual(More)
The retinal degeneration slow (rds or Prph2(Rd2/Rd2)) mouse, a model of recessive retinitis pigmentosa, lacks a functional gene encoding peripherin 2. This membrane glycoprotein is required for the formation of photoreceptor outer segment discs. The striking feature of the rds mouse is the complete failure to develop outer segments. We have previously(More)
Uveitis is a sight threatening inflammatory disorder that remains a significant cause of visual loss. We investigated lentiviral gene delivery of interleukin 1 receptor antagonist (IL-1ra) or interleukin (IL)-10 to ameliorate murine endotoxin-induced uveitis (EIU). An human immunodeficiency virus-1-based vector containing the mIL-1ra or mIL-10 cDNA(More)
AIMS To characterize genotype, phenotype, and age-related penetrance in a Swiss pedigree with juvenile open-angle glaucoma (JOAG). METHODS In a large Swiss family with history of glaucoma and 82 living members of four generations, we conducted molecular analysis and a detailed phenotype characterization in 52 family members. Mutation analysis was carried(More)
BACKGROUND In hereditary retinal degeneration, microglia cells become activated, migrate through the outer nuclear layer (ONL) and accumulate in the subretinal space. Although this inflammatory process is not likely to be responsible for the onset of photoreceptor apoptosis, cytotoxic substances secreted by activated microglia could potentially accelerate(More)
Using confocal microscopy we have examined in detail the temporal and spatial pattern of green fluorescent protein expression following sub-retinal injection of recombinant adeno-associated virus (rAAV) in the mouse and have determined the effect of viral titre on the number and type of cells transduced. Our results suggest that some transgene expression(More)
PURPOSE This study evaluated the long-term effect of pars plana vitrectomy (PPV) in children and adolescents with chronic uveitis on visual function, anatomical outcome, and the requirement of systemic treatment. Further, predictive preoperative factors associated with a beneficial visual outcome were assessed. METHODS Retrospective review of 29 eyes of(More)
BACKGROUND The aim of this study was to evaluate the role of pars plana vitrectomy (PPV) in patients with persistent vitreous floaters (VF) in phakic (56.7 %) or pseudophakic (43.3 %) eyes. SUBJECTS AND METHODS A retrospective study of 24 consecutive patients (30 eyes) who underwent a 2-port-PPV using indirect opthalmoscopy between 1992 and 2003 was(More)
Mehr als 60 Gene, deren Mutation zu einer erblichen Netzhautdegeneration führen, konnten bisher identifiziert werden. Sie werden entweder im Photorezeptor oder im retinalen Pigmentepithel exprimiert. Diese beiden Zelltypen sind zum Ziel neuer molekularer Therapiestrategien geworden. Der derzeit vielversprechendste Ansatz ist die somatische Gentherapie, die(More)
PURPOSE The low diagnostic yield of vitrectomy specimen analysis in chronic idiopathic uveitis (CIU) has been related to the complex nature of the underlying disease and to methodologic and tissue immanent factors in older studies. In an attempt to evaluate the impact of recently acquired analytic methods, the authors assessed the current diagnostic yield(More)