Use of spectral domain-optical coherence tomography to visualize photoreceptor abnormalities in cone-rod dystrophy 6.

Purpose: The purpose of this study was to describe the spectral domain-optical coherence tomography findings in a patient with cone-rod dystrophy 6.

Methods: This is a case report of a 13-year-old girl who presented with progressive loss of vision. Fundus photography, a fluorescein angiogram, an electroretinogram, autofluorescence imaging, spectral domain-optical coherence tomography, and genetic testing were performed.

Comprehensive analysis of complement factor H and LOC387715/ARMS2/HTRA1 variants with respect to phenotype in advanced age-related macular degeneration.

Purpose: To examine the interaction of genotypic variation of 16 single-nucleotide polymorphisms (SNP) in the complement factor H (CFH) and LOC387715/ARMS2/HTRA1 loci with clinical characteristics of age-related macular degeneration (AMD).

Design: Retrospective cohort study.

Methods: Eighty-four patients with neovascular AMD were genotyped using direct sequencing or Sequenom iPLEX technology.

Elevated erythropoietin and vascular endothelial growth factor levels in an adolescent with retinal neovascularization from a chronic rhegmatogenous retinal detachment.

Purpose: To evaluate the role of erythropoietin and vascular endothelial growth factor (VEGF) in a patient with retinal neovascularization from a rhegmatogenous retinal detachment of long duration.

Methods: Fundus photography, fluorescein angiography, and vitreous analysis were performed. The vitreous concentrations of erythropoietin and VEGF were measured by enzyme-linked immunosorbent assays and compared with control levels.

The genetics and ocular findings of Alagille syndrome.

Alagille syndrome is an autosomal dominant disorder caused by mutations in the JAG1 gene. The JAG1 gene encodes a ligand for the Notch receptor and thus is part of a critical signaling pathway during development. The ophthalmologist can play an important role in the diagnosis of Alagille syndrome by identifying the characteristic ocular findings.

Constitutive and cytokine-induced GITR ligand expression on human retinal pigment epithelium and photoreceptors.

Purpose: The glucocorticoid-induced TNF-related receptor (GITR) plays a pivotal role in regulating the suppressive function of CD4+CD25+ regulatory T cells. GITR is also involved in the inhibition of T-cell receptor-induced apoptosis and the upregulation of inducible nitric oxide synthase (iNOS). GITR expression on CD4+ T cells has been shown to correlate with the disease course of noninfectious uveitis.

Expression of glucocorticoid induced TNF receptor family related protein (GITR) on peripheral T cells from normal human donors and patients with non-infectious uveitis.

The expression of the glucocorticoid induced TNF receptor family related gene (GITR) in subsets of T lymphocytes from human peripheral blood was studied. In normal human peripheral blood mononuclear cells, GITR expression on the resting CD4+ T cells was low but markedly increased after activation. The percentage of GITR+ T cells in the CD4+CD25+ T cell subpopulation (15.