Genome wide association study and genomic risk prediction of age related macular degeneration in Israel.

The risk of developing age-related macular degeneration (AMD) is influenced by genetic background. In 2016, the International AMD Genomics Consortium (IAMDGC) identified 52 risk variants in 34 loci, and a polygenic risk score (PRS) from these variants was associated with AMD. The Israeli population has a unique genetic composition: Ashkenazi Jewish (AJ), Jewish non-Ashkenazi, and Arab sub-populations.

Genome-wide association study and genomic risk prediction of age-related macular degeneration in Israel.

Purpose: The risk of developing age-related macular degeneration(AMD) is influenced by genetic background. In 2016, International AMD Genomics Consortium(IAMDGC) identified 52 risk variants in 34 loci, and a polygenic risk score(PRS) based on these variants was associated with AMD. The Israeli population has a unique genetic composition: Ashkenazi Jewish(AJ), Jewish non-Ashkenazi, and Arab sub-populations.

Phase I NT-501 Ciliary Neurotrophic Factor Implant Trial for Primary Open-Angle Glaucoma: Safety, Neuroprotection, and Neuroenhancement.

Purpose: To assess the safety and efficacy of a ciliary neurotrophic factor (CNTF) intraocular implant on neuroprotection and neuroenhancement in glaucoma.

Design: Open-label, prospective, phase I clinical trial.

Participants: A total of 11 participants were diagnosed with primary open-angle glaucoma (POAG).

Structural and Metabolic Imaging After Short-term Use of the Balance Goggles System in Glaucoma Patients: A Pilot Study.

Prcis: Short-term use of the Balance Goggles System (BGS) in glaucoma patients was not associated with the observable changes in conventional ocular coherence tomography (OCT) imaging, but metabolic imaging using peripapillary flavoprotein fluorescence (FPF) may represent a useful adjuctive investigation.

Objective: To determine whether the intraocular pressure (IOP)-lowering effects of the BGS are accompanied by changes in retinal thickness measured by OCT, retinal vascular density measured by ocular coherence tomography-angiography (OCTA), or novel peripapillary metabolic profiling using FPF measured by a fundus camera.

Design: Prospective comparative case-series.

Phase 1b Randomized Controlled Study of Short Course Topical Recombinant Human Nerve Growth Factor (rhNGF) for Neuroenhancement in Glaucoma: Safety, Tolerability, and Efficacy Measure Outcomes.

Purpose: No approved therapies directly target retinal ganglion cells (RGCs) for neuroprotection or neuroenhancement in glaucoma. Recombinant human nerve growth factor (rhNGF) has been shown to promote RGC survival and function in animal models of optic neuropathy. Here we evaluate the safety, tolerability, and efficacy of short-term, high-dose rhNGF eye drops versus placebo in a cohort of glaucoma patients.

Analysis of the Aqueous Humor Proteome in Patients With Age-Related Macular Degeneration.

Purpose: Age-related macular degeneration (AMD) is associated with altered gene and protein expression in the retina. We characterize the aqueous humor (AH) proteome in AMD to gain insight into the pathogenesis of the disease and identify potential biomarkers.

Methods: AH was collected from age and gender matched neovascular AMD (nvAMD; n = 10) patients and controls (n = 10).

Long-term outcome of neovascular age-related macular degeneration: association between treatment outcome and major risk alleles.

Aims: To evaluate the long-term functional and anatomical outcomes of neovascular age-related macular degeneration (nvAMD) treated with intravitreal anti-vascular endothelial growth factor (anti-VEGF) for up to 10 years, and to identify associated risk factors.

Methods: Clinical and optical coherence tomography findings were retrieved for nvAMD cases treated with intravitreal anti-VEGF compounds using a treat-and-extend protocol. In addition, the major risk alleles for AMD in the (rs1061170), (rs1200638) and (rs2230199) genes were genotyped.

Discovery and clinical translation of novel glaucoma biomarkers.

Glaucoma and other optic neuropathies are characterized by progressive dysfunction and loss of retinal ganglion cells and their axons. Given the high prevalence of glaucoma-related blindness and the availability of treatment options, improving the diagnosis and precise monitoring of progression in these conditions is paramount. Here we review recent progress in the development of novel biomarkers for glaucoma in the context of disease pathophysiology and we propose future steps for the field, including integration of exploratory biomarker outcomes into prospective therapeutic trials.

Socioeconomic status and visual outcome in patients with neovascular age-related macular degeneration.

Purpose: Visual outcome in patients with neovascular age-related macular degeneration is variable. We aimed to evaluate for association between socioeconomic status visual acuity in neovascular age-related macular degeneration.

Methods: A retrospective single-center study of a consecutive group of neovascular age-related macular degeneration patients was performed.

Association of a Variant in VWA3A with Response to Anti-Vascular Endothelial Growth Factor Treatment in Neovascular AMD.

Purpose: Anti-vascular endothelial growth factor (VEGF) therapy for neovascular AMD (nvAMD) obtains a variable outcome. We performed a genome-wide association study for anti-VEGF treatment response in nvAMD to identify variants potentially underlying such a variable outcome.

Methods: Israeli patients with nvAMD who underwent anti-VEGF treatment (n = 187) were genotyped on a whole exome chip containing approximately 500,000 variants.

Molecular Biomarkers for Glaucoma.

Purpose Of Review: This article summarizes the current studies on molecular biomarkers with potential implications in diagnosis, prognosis, and response to treatment in patients with glaucoma.

Recent Findings: Important advances have occurred in the understanding of the pathogenesis of glaucomatous neurodegeneration. Protein biomarkers associated with inflammatory, neurodegenerative, and other molecular pathways have been described in glaucoma patients in tear film, aqueous fluid, vitreous fluid, and serum, however, we are still far from having a clear picture of the whole molecular network that relates to the disease and its implications in clinical use.

Bevacizumab treatment for neovascular age-related macular degeneration in the setting of a clinic: "real life" long-term outcome.

Background: To evaluate the long-term outcome of bevacizumab therapy for neovascular age related macular degeneration (NVAMD) in the setting of a clinic.

Methods: Consecutive group of NVAMD patients who were treated in a single 3(rd) referral center with bevacizumab using a loading dosage of 3 monthly injections followed by variable dosing for at least 48 months were retrospectively evaluated. Genotyping was performed for CFH (rs1061170), HTRA1 (rs1200638), and C3 (rs2230199).

Paediatric and adolescent elevated conjunctival lesions in the plical area: lymphoma or reactive lymphoid hyperplasia?

Objective: To report clinical, histopathological and molecular features of 'salmon patch'-like conjunctival lesions in paediatric and adolescent patients, and discuss management of these patients and outcome.

Methods: Patients who presented between 2000 and 2011 with a conjunctival 'salmon-patch'-like lesion in the plical area, were identified by chart review. Clinical parameters, demographic characteristics and details of ophthalmic imaging were collected, and the effect of treatment examined.

Pars plana vitrectomy to repair retinal detachment following brachytherapy for uveal melanoma.

Aims: Retinal detachment can develop following brachytherapy for uveal melanoma. This complication may result in substantial visual loss and poses a significant therapeutic dilemma due to the required surgical intervention for correction of the detachment. We report the incidence of retinal detachment in eyes treated with brachytherapy for posterior uveal melanoma and the outcome of pars plana vitrectomy in those eyes.