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Investigative Ophthalmology & Visual Science

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https://www.readbyqxmd.com/read/28208185/evaluation-of-progressive-visual-dysfunction-and-retinal-degeneration-in-patients-with-parkinson-s-disease
#1
Maria Satue, Maria J Rodrigo, Javier Obis, Elisa Vilades, Hector Gracia, Sofia Otin, Maria I Fuertes, Raquel Alarcia, Jose A Crespo, Vicente Polo, Jose M Larrosa, Luis E Pablo, Elena Garcia-Martin
Purpose: To quantify changes in visual function parameters and in the retinal nerve fiber layer and macular thickness over a 5-year period in patients with Parkinson's disease (PD). Methods: Thirty patients with PD and 30 healthy subjects underwent a complete ophthalmic evaluation, including assessment of visual acuity, contrast sensitivity vision, color vision, and retinal evaluation with spectral-domain optical coherence tomography (SD-OCT). All subjects were reevaluated after 5 years to quantify changes in visual function parameters, the retinal nerve fiber layer, and macular thickness...
February 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28199486/gsg1-trnp1-and-tmem215-mark-subpopulations-of-bipolar-interneurons-in-the-mouse-retina
#2
Ko Uoon Park, Grace Randazzo, Kenneth L Jones, Joseph A Brzezinski
Purpose: How retinal bipolar cell interneurons are specified and assigned to specialized subtypes is only partially understood. In part, this is due to a lack of early pan- and subtype-specific bipolar cell markers. To discover these factors, we identified genes that were upregulated in Blimp1 (Prdm1) mutant retinas, which exhibit precocious bipolar cell development. Methods: Postnatal day (P)2 retinas from Blimp1 conditional knock-out (CKO) mice and controls were processed for RNA sequencing...
February 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28196227/the-ocular-glymphatic-system-and-idiopathic-intracranial-hypertension-author-response-to-hypodense-holes-and-the-ocular-glymphatic-system
#3
Alastair K Denniston, Pearse A Keane, Anuriti Aojula, Alex J Sinclair, Susan P Mollan
No abstract text is available yet for this article.
February 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28196226/-hypodense-holes-and-the-ocular-glymphatic-system-author-response-black-holes-and-the-ocular-glymphatic-system
#4
Peter Wostyn, Veva De Groot, Debby Van Dam, Kurt Audenaert, Peter Paul De Deyn, Hanspeter Esriel Killer
No abstract text is available yet for this article.
February 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28196225/blood-vessel-basement-membrane-alterations-in-human-retinal-microaneurysms-during-aging
#5
Mariana López-Luppo, Victor Nacher, David Ramos, Joana Catita, Marc Navarro, Ana Carretero, Alfonso Rodriguez-Baeza, Luísa Mendes-Jorge, Jesús Ruberte
Purpose: Microaneurysms, considered a hallmark of retinal vascular disease, are present in aged retinas. Here, the basement membrane of human retinal microaneurysms has been analyzed during aging. Methods: Retinas were obtained from 17 nondiabetic donors. Whole mount retinas and paraffin sections were marked immunohistochemically with antibodies against the main components of the blood basement membrane. Trypsin digestion and transmission electron microscopy also were performed...
February 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28196224/loss-of-tryptophan-fluorescence-correlates-with-mechanical-stiffness-following-photo-crosslinking-treatment-of-rabbit-cornea
#6
Maura Williams, William Lewis, Walfre Franco
Purpose: A clinical treatment option for keratoconus involves the use of UV-initiated photo-crosslinking with riboflavin to increase corneal stiffness. Our study investigates whether endogenous fluorescence changes following treatment for keratoconus can be correlated to alterations in the stiffness of the cornea, thereby guiding treatment of keratoconus. Methods: A total of 78 ex vivo rabbit eyes were treated with either riboflavin-dextran solution plus UV light, dextran solution plus UV light, or riboflavin-dextran solution only for half treatment (2...
February 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28195603/classification-of-exudative-age-related-macular-degeneration-with-pachyvessels-on-en-face-swept-source-optical-coherence-tomography
#7
Danny Siu-Chun Ng, Malini Bakthavatsalam, Frank Hiu-Ping Lai, Carol Yim-Lui Cheung, Gemmy Chu-Ming Cheung, Fang Yao Tang, Chi Wai Tsang, Timothy Yuk-Yau Lai, Tien Yin Wong, Mårten Erik Brelén
Purpose: The purpose of this study was to classify exudative maculopathy by the presence of pachyvessels on en face swept-source optical coherence tomography (SSOCT). Methods: Consecutive patients with signs of exudative maculopathy underwent SSOCT, fluorescein and indocyanine green angiography (ICGA), ultra-widefield fundus color photography, and autofluorescence examinations. Images were analyzed in a masked fashion by two sets of four examiners in different sessions: (1) the presence of pachyvessels in en face OCT and (2) features of exudative maculopathy in conventional imaging modalities...
February 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28192800/molecular-profiling-of-the-developing-lacrimal-gland-reveals-putative-role-of-notch-signaling-in-branching-morphogenesis
#8
Galina Dvoriantchikova, Wensi Tao, Steve Pappas, Gabriel Gaidosh, David T Tse, Dmitry Ivanov, Daniel Pelaez
Purpose: Although normal function of the lacrimal gland is essential for vision (and thus for human well-being), the lacrimal gland remains rather poorly understood at a molecular level. The purpose of this study was to identify new genes and signaling cascades involved in lacrimal gland development. Methods: To identify these genes, we used microarray analysis to compare the gene expression profiles of developing (embryonic) and adult lacrimal glands. Differential data were validated by quantitative RT-PCR, and several corresponding proteins were confirmed by immunohistochemistry and Western blot analysis...
February 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28192799/cyp1b1-regulates-ocular-fissure-closure-through-a-retinoic-acid-independent-pathway
#9
Antionette L Williams, Jessica Eason, Bahaar Chawla, Brenda L Bohnsack
Purpose: Mutations in the CYP1B1 gene are the most commonly identified genetic causes of primary infantile-onset glaucoma. Despite this disease association, the role of CYP1B1 in eye development and its in vivo substrate remain unknown. In the present study, we used zebrafish to elucidate the mechanism by which cyp1b1 regulates eye development. Methods: Zebrafish eye and neural crest development were analyzed using live imaging of transgenic zebrafish embryos, in situ hybridization, immunostaining, TUNEL assay, and methylacrylate sections...
February 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28192798/identification-of-angpt2-as-a-new-gene-for-neovascular-age-related-macular-degeneration-and-polypoidal-choroidal-vasculopathy-in-the-chinese-and-japanese-populations
#10
Li Ma, Marten E Brelen, Motokazu Tsujikawa, Haoyu Chen, Wai Kit Chu, Timothy Y Y Lai, Danny S C Ng, Kaori Sayanagi, Chicako Hara, Noriyasu Hashida, Vesta C K Chan, Pancy O S Tam, Alvin L Young, Weiqi Chen, Kohji Nishida, Chi Pui Pang, Li Jia Chen
Purpose: We determine the angiopoietin 2 (ANGPT2) gene as a new susceptibility gene for neovascular age-related macular degeneration (nAMD) and polypoidal choroidal vasculopathy (PCV). Methods: A total of 34 haplotype-tagging single-nucleotide polymorphisms (SNPs) were first genotyped in an exploratory Hong Kong Chinese cohort. Suggestive SNPs were replicated in a Shantou Chinese cohort and an Osaka Japanese cohort, with a total of 2343 subjects. The SNP rs800292 in the complement factor H (CFH) gene was genotyped in all the subjects...
February 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28192797/aberrant-buildup-of-all-trans-retinal-dimer-a-nonpyridinium-bisretinoid-lipofuscin-fluorophore-contributes-to-the-degeneration-of-the-retinal-pigment-epithelium
#11
Junli Zhao, Yi Liao, Jingmeng Chen, Xinran Dong, Zhan Gao, Houjian Zhang, Xiaodan Wu, Zuguo Liu, Yalin Wu
Purpose: Nondegradable fluorophores that accumulate as deleterious lipofuscin of RPE are involved in pathological mechanisms leading to the degeneration of RPE in AMD. A2E, a major component of RPE lipofuscin, could cause damage to RPE cells. Nevertheless, all-trans-retinal dimer (atRAL dimer) was found to be much more abundant than that of A2E in eyes of Abca4-/-Rdh8-/- double-knockout (DKO) mice, a rodent model showing the typical characteristics of retinopathies in AMD patients. Our aim was to elucidate the effect and mechanism of atRAL dimer-induced RPE degeneration...
February 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28192796/analysis-of-the-prpf31-gene-in-spanish-autosomal-dominant-retinitis-pigmentosa-patients-a-novel-genomic-rearrangement
#12
Inmaculada Martin-Merida, Rocio Sanchez-Alcudia, Patricia Fernandez-San Jose, Fiona Blanco-Kelly, Raquel Perez-Carro, Luciana Rodriguez-Jacy da Silva, Berta Almoguera, Blanca Garcia-Sandoval, Maria Isabel Lopez-Molina, Almudena Avila-Fernandez, Miguel Carballo, Marta Corton, Carmen Ayuso
Purpose: The aim was to determine the prevalence of PRPF31 mutations in a cohort of Spanish autosomal dominant retinitis pigmentosa (adRP) families to deepen knowledge of the pathogenic mechanisms underlying the disease and to assess genotype-phenotype correlations. Methods: A cohort of 211 adRP patients was screened for variants in PRPF31 by using a combined strategy comprising next-generation sequencing approaches and copy-number variation (CNV) analysis. Quantitative RT-PCR and CNV analysis of the regulatory MSR1 element were also performed to assess PRPF31 gene expression...
February 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28192795/wide-field-en-face-swept-source-optical-coherence-tomography-features-of-extrafoveal-retinoschisis-in-highly-myopic-eyes
#13
Wei Xiao, Zhuoting Zhu, Capucine Odouard, Ou Xiao, Xinxing Guo, Mingguang He
Purpose: To evaluate the features of extrafoveal retinoschisis (EFRS) in highly myopic eyes detected by swept-source optical coherence tomography (SS-OCT). Methods: In this retrospective case series, 89 eyes of 65 patients with high myopia and coexisting EFRS were included. The participants underwent a comprehensive ophthalmologic examination, including visual acuity, ocular biometry, refraction, and perimetry. Three-dimensional wide-field scans were obtained with SS-OCT, and en face images were reconstructed with custom software...
February 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28192794/the-genetic-causes-of-nonsyndromic-congenital-retinal-detachment-a-genetic-and-phenotypic-study-of-pakistani-families
#14
Vafa Keser, Ayesha Khan, Sorath Siddiqui, Irma Lopez, Huanan Ren, Raheel Qamar, Javad Nadaf, Jacek Majewski, Rui Chen, Robert K Koenekoop
Purpose: To evaluate consanguineous pedigrees from Pakistan with a clinical diagnosis of nonsyndromic congenital retinal nonattachment (NCRNA) and identify genes responsible for the disease as currently only one NCRNA gene is known (atonal basic helix-loop-helix transcription factor 7: ATOH7). Methods: We implemented a three-step genotyping platform: single nucleotide polymorphism genotyping to identify loss of heterozygosity regions in patients, Retinal Information Network panel screening for mutations in currently known retinal genes...
February 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28192564/a-japanese-family-with-autosomal-dominant-oculocutaneous-albinism-type-4
#15
Ryoko Oki, Kisaburo Yamada, Satoko Nakano, Kenichi Kimoto, Ken Yamamoto, Hiroyuki Kondo, Toshiaki Kubota
Purpose: We report the clinical characteristics of a Japanese family with autosomal dominant oculocutaneous albinism and a SLC45A2 gene mutation. Methods: A total of 16 members of a Japanese family with general hypopigmentation and foveal hypoplasia underwent detailed clinical examinations. We evaluated the severity of foveal hypoplasia using spectral-domain optical coherence tomography (SD-OCT) and graded it according to the criteria of Thomas et al. DNA was extracted from 17 family members and used for genome-wide single nucleotide polymorphism genotyping and linkage analysis...
February 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28170539/objective-quantification-of-changes-in-corneal-clouding-over-time-in-patients-with-mucopolysaccharidosis
#16
Ahmed Javed, Tariq Aslam, Simon A Jones, Jane Ashworth
Purpose: We determine objective changes in corneal opacification levels over time in patients with mucopolysaccharidoses (MPS) treated with enzyme replacement therapy or hematopoietic stem cell transplant. A prospective cohort study was done of 9 patients with MPS I (Hurler) or VI (Maroteaux-Lamy). Methods: Quantification of corneal clouding using the Iris camera and full ophthalmic examination, including subjective assessment of corneal clouding, was done in 2011 and repeated in 2015/2016...
February 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28170538/microglia-activation-and-recruitment-of-circulating-macrophages-during-ischemic-experimental-branch-retinal-vein-occlusion
#17
Andreas Ebneter, Despina Kokona, Nadia Schneider, Martin S Zinkernagel
Purpose: To characterize retinal microglia activation and macrophage recruitment in experimental branch retinal vein occlusion (BRVO). Methods: Experimental BRVO was induced in Balb/c mice and histologic changes were studied. Tissue hypoxia was visualized using pimonidazole hydrochloride. Monocyte-derived retinal cells were quantified using histology and flow cytometry. To investigate the dynamics of invading blood-borne macrophages, chimera mice were generated using bone marrow grafts from Cx3cr1(gfp/gfp) mice to rescue lethally irradiated wild-type BALB/c mice...
February 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28170537/adenosine-deaminase-2-induced-hyperpermeability-in-human-retinal-vascular-endothelial-cells-is-suppressed-by-microrna-146b-3p
#18
Yara A Samra, Heba M Saleh, Khaled A Hussein, Nehal M Elsherbiny, Ahmed S Ibrahim, Khaled Elmasry, Sadanand Fulzele, Mamdouh M El-Shishtawy, Laila A Eissa, Mohamed Al-Shabrawey, Gregory I Liou
Purpose: We recently demonstrated that adenosine deaminase-2 (ADA2) contributes to diabetic retinopathy (DR) via up-regulating the production of inflammatory cytokines in macrophages. Also, microRNA (miR)-146b-3p has the ability to inhibit ADA2. The goal of this study was to investigate the potential role of ADA2 and therapeutic benefit of miR-146b-3p in retinal inflammation and endothelial barrier dysfunction during diabetes. Methods: Adenosine deaminase-2 activity was determined by colorimetric method in diabetic human vitreous...
February 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28170536/astrocytes-in-the-optic-nerve-head-of-glaucomatous-mice-display-a-characteristic-reactive-phenotype
#19
Rui Wang, Philip Seifert, Tatjana C Jakobs
Purpose: Optic nerve head astrocytes, a subtype of white-matter astrocytes, become reactive early in the course of glaucoma. It was shown recently that in the DBA/2J mouse model of inherited glaucoma optic nerve astrocytes extend new longitudinal processes into the axon bundles before ganglion cell loss becomes apparent. The present study aims at testing whether this behavior of astrocytes is typical of early glaucomatous damage. Methods: Mice expressing green fluorescent protein in individual astrocytes were used to evaluate the early response of astrocytes in the glial lamina of the optic nerve head after increasing the IOP using the microbead occlusion method...
February 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28170535/activation-of-p38-and-erk-mitogen-activated-protein-kinases-signaling-in-ocular-rosacea
#20
Edward J Wladis, Supraja Swamy, Alyssa Herrmann, Jinhong Yang, J Andrew Carlson, Alejandro P Adam
Purpose: Rosacea-related cutaneous inflammation is a common cause of ocular surface disease. Currently, there are no specific pharmacologic therapies to treat ocular rosacea. Here, we aimed at determining the differences in intracellular signaling activity in eyelid skin from patients with and without ocular rosacea. Methods: This was an observational, comparative case series including 21 patients undergoing lower lid ectropion surgery at one practice during 2013 and 2014 (18 patients with rosacea, 13 control patients), and 24 paraffin-embedded archival samples from Albany Medical Center, selected randomly (12 patients with rosacea, 12 control patients)...
February 1, 2017: Investigative Ophthalmology & Visual Science
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