Genetics and Age-Related Eye Disease Study Formulation Interaction in Neovascular Age-Related Macular Degeneration.

Purpose: This work aims to determine whether previously defined genotype risk groups interact with Age-Related Eye Disease Study formulation (AREDS-F) use in progression to neovascular age-related macular degeneration (nvAMD).

Methods: We conducted a case-only study of 265 nvAMD patients. Patients were anonymously genotyped at the complement factor H and age-related maculopathy susceptibility 2 loci and segregated into genotype groups (GTGs) defined by specific combinations of risk alleles.

Bilateral panuveitis in a patient on vemurafenib BRAF inhibitor therapy for stage IV melanoma.

Purpose: To describe a case of recurrent, bilateral panuveitis caused by the BRAF proto-oncogene inhibitor vemurafenib.

Methods: Case report.

Results: A 25-year-old woman developed bilateral panuveitis and macular edema after initiating treatment with the BRAF enzyme inhibitor vemurafenib for stage IV cutaneous melanoma.

Surgical management and ultrastructural study of choroidal neovascularization in punctate inner choroidopathy after bevacizumab.

Purpose: This study aims to describe surgical management results and the pathologic features of choroidal neovascularization (CNV) secondary to punctate inner choroidopathy (PIC) following anti-vascular endothelial growth factor treatment.

Design: This study is a case report on the surgical management and ultrastructural study of choroidal neovascularization.

Methods: Clinicopathologic and ultrastructural report of CNV membranes excised from both eyes of one patient was presented.

Spontaneous resolution of macular schisis in goldmann favre syndrome.

Purpose: The purpose of this study is to report a case of spontaneous flattening of macular schisis in a patient affected by Goldmann Favre syndrome (GFS).

Methods: A case report.

Results: A young boy affected by GFS came for a follow-up visit 10 years after the diagnosis.

Contact lens intraocular foreign body presenting 1 year after traumatic open globe repair.

Purpose: To describe an intraocular contact lens presenting as a foreign body 1 year after repair of a traumatic open globe.

Method: A case report.

Results: The patient underwent open globe repair for a scleral laceration.

Long-term follow-up in enhanced s-cone syndrome.

Purpose: To report the long-term follow-up of a case of enhanced S-cone syndrome (ESCS).

Methods: Retrospective chart review.

Results: The patient was misdiagnosed with atypical retinitis pigmentosa at 17 years of age.

Phenotypic features of patients with NR2E3 mutations.

Objective: To describe the phenotypes of 5 patients with NR2E3 mutations.

Methods: Two patients with familial and 3 with sporadic early-onset nyctalopia and retinal pigment abnormalities were screened for mutations in the NR2E3 gene (OMIM 604485). The clinical course, fundus features, visual field test results, and fluorescein angiographic and electrophysiologic findings were compared.

Genetics of hereditary vitreoretinal degenerations.

The hereditary vitreoretinal disorders have variable vitreoretinal and other ocular and skeletal abnormalities. Some of these conditions represent a spectrum of clinical disease. This, along with the phenotypic variability, often leads to diagnostic difficulties.

Upregulation of RAGE and its ligands in proliferative retinal disease.

We sought to study the presence of the receptor for advanced glycation endproducts (RAGE) and its ligands, advanced glycation endproducts (AGEs), S100/calgranulins and amphoterin (high mobility group box 1 protein; HMGB1), in the vitreous cavity and epiretinal membranes (ERMs) of eyes of patients with proliferative diabetic retinopathy (PDR) and proliferative vitreoretinopathy (PVR). Undiluted vitreous specimens were collected from 30 eyes of 30 patients undergoing pars plana vitrectomy for repair of retinal detachment (RD) secondary to PDR (n = 15) or PVR (n = 15). The vitreous samples obtained from 10 eyes undergoing macular hole repair were used as controls.

Apoptosis and cell proliferation in proliferative retinal disorders: PCNA, Ki-67, caspase-3, and PARP expression.

Purpose: To assess the incidence of cell proliferation and apoptosis in epiretinal membranes from eyes with proliferative vitreoretinopathy (PVR), proliferative diabetic retinopathy (PDR), and macular pucker (MP) and to further investigate the potential involvement of key executors of apoptosis.

Methods: Epiretinal membranes were obtained from the eyes of 23 patients who underwent vitrectomy surgery for recurrent retinal detachment due to PVR (n = 16), traction retinal detachment due to PDR (n = 5), and macular pucker (n = 2). Cell proliferation was evaluated by Ki-67 and PCNA (proliferation cell nuclear antigen) immunostaining.

Mechanisms for the induction of HNE- MDA- and AGE-adducts, RAGE and VEGF in retinal pigment epithelial cells.

Pathological features of age-related macular degeneration such as the formation of extracellular deposits and neovascularization are frequently viewed as outcomes of compromising processes within retinal pigment epithelial cells, but the initiating circumstances are poorly understood. Here we tested the hypothesis that photooxidation events initiated by A2E, a blue light-excitable aging fluorophore of the retinal pigment epithelium, can set the stage for altered cellular signaling and changes in the expression of genes that can impact the extracellular milieu. Proteins modified by lipid peroxidation products (4-hydroxynonenal; malondialdhyde) and advanced glycation end products were detected at sites of blue light irradiation both in association with the cultured A2E-laden retinal pigment epithelial cells and within the fibronectin substrate on which the cells were grown.

RAGE limits regeneration after massive liver injury by coordinated suppression of TNF-alpha and NF-kappaB.

The exquisite ability of the liver to regenerate is finite. Identification of mechanisms that limit regeneration after massive injury holds the key to expanding the limits of liver transplantation and salvaging livers and hosts overwhelmed by carcinoma and toxic insults. Receptor for advanced glycation endproducts (RAGE) is up-regulated in liver remnants selectively after massive (85%) versus partial (70%) hepatectomy, principally in mononuclear phagocyte-derived dendritic cells (MPDDCs).

RAGE modulates peripheral nerve regeneration via recruitment of both inflammatory and axonal outgrowth pathways.

Axotomy of peripheral nerve stimulates events in multiple cell types that initiate a limited inflammatory response to axonal degeneration and simultaneous outgrowth of neurites into the distal segments after injury. We found that pharmacological blockade of RAGE impaired peripheral nerve regeneration in mice subjected to RAGE blockade and acute crush of the sciatic nerve. As our studies revealed that RAGE was expressed in axons and in infiltrating mononuclear phagocytes upon injury, we tested the role of RAGE in these distinct cell types on nerve regeneration.