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https://www.readbyqxmd.com/read/29668072/a-unique-telomere-dna-expansion-phenotype-in-human-retinal-rod-photoreceptors-associated-with-aging-and-disease
#1
W Robert Bell, Alan K Meeker, Anthony Rizzo, Sumit Rajpara, Ian M Rosenthal, Miguel Flores Bellver, Silvia Aparicio Domingo, Xiufeng Zhong, John R Barber, Corinne E Joshu, M Valeria Canto-Soler, Charles G Eberhart, Christopher M Heaphy
We have identified a discrete, focal telomere DNA expansion phenotype in the photoreceptor cell layer of normal, non-neoplastic human retinas. This phenotype is similar to that observed in a subset of human cancers, including a large fraction of tumors of the central nervous system, which maintain their telomeres via the non-telomerase-mediated alternative lengthening of telomeres (ALT) mechanism. We observed that these large, ultra-bright telomere DNA foci are restricted to the rod photoreceptors and are not observed in other cell types...
April 18, 2018: Brain Pathology
https://www.readbyqxmd.com/read/29667738/visual-outcome-in-cats-with-hypertensive-chorioretinopathy
#2
Whitney M Young, Chaowen Zheng, Michael G Davidson, Hans D Westermeyer
PURPOSE: To investigate factors associated with long-term visual outcome in cats with hypertensive chorioretinopathy. ANIMALS STUDIED: Eighty-eight client-owned cats diagnosed with hypertensive chorioretinopathy. PROCEDURE: Medical records from cats with systemic hypertension and associated retinal lesions were reviewed. RESULTS: Most cats (61%) were blind in both eyes at presentation. Presence of menace response at last follow-up evaluation was positively correlated with presence of menace response at presentation (P = ...
April 18, 2018: Veterinary Ophthalmology
https://www.readbyqxmd.com/read/29667428/optical-coherence-tomography-angiography-characterization-of-acute-and-late-stage-purtscher-retinopathy
#3
Pedro Gil, Miguel Raimundo, João P Marques, João Póvoa, Rufino Silva
PURPOSE: To report a case of Purtscher retinopathy imaged with optical coherence tomography angiography. METHODS: Case-report. Left eye fundoscopic examination in a 21-year old male after a road traffic accident with chest compression revealed multiple peri-papillary cotton-wool spots and intra- and pre-retinal hemorrhages. A diagnosis of Purtscher retinopathy was assumed. RESULTS: In both the superficial and deep retinal plexuses, acute stage optical coherence tomography angiography identified multiple irregular areas of capillary non-perfusion that extended beyond the clinically visible peri-papillary cotton-wool spots...
April 1, 2018: European Journal of Ophthalmology
https://www.readbyqxmd.com/read/29667170/cone-synapses-in-mammalian-retinal-rod-bipolar-cells
#4
Ji-Jie Pang, Zhuo Yang, Roy A Jacoby, Samuel M Wu
Some mammalian rod bipolar cells (RBCs) can receive excitatory chemical synaptic inputs from both rods and cones (DBCR2 ), but anatomical evidence for mammalian cone-RBC contacts has been sparse. We examined anatomical cone-RBC contacts using neurobiotin (NB) to visualize individual mouse cones and standard immuno-markers to identify RBCs, cone pedicles and synapses in mouse and baboon retinas. Peanut agglutinin (PNA) stained the basal membrane of all cone pedicles, and mouse cones were positive for red/green (R/G)-opsin, whereas baboon cones were positive for calbindin D-28k...
April 18, 2018: Journal of Comparative Neurology
https://www.readbyqxmd.com/read/29666954/clinical-characteristics-of-a-japanese-patient-with-bardet-biedl-syndrome-caused-by-bbs10-mutations
#5
Kentaro Kurata, Katsuhiro Hosono, Akiko Hikoya, Akihiko Kato, Hirotomo Saitsu, Shinsei Minoshima, Tsutomu Ogata, Yoshihiro Hotta
PURPOSE: Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder characterized by retinal dystrophy, renal dysfunction, central obesity, mental impairment, polydactyly, and hypogonadism. Only limited information on BBS is available from Japanese patients. In addition, there are currently no reports of Japanese patients with BBS caused by BBS10 mutations. The purpose of this study was to present the characteristics of a Japanese patient with BBS caused by BBS10 mutations. PATIENT AND METHODS: The patient was a 22-year-old Japanese woman...
April 17, 2018: Japanese Journal of Ophthalmology
https://www.readbyqxmd.com/read/29666920/-unusual-coloboma-of-the-optic-disc
#6
J Lenk, L E Pillunat, E Matthé
A twelve-year old girl presented herself for a routine ophthalmologic examination in our clinic. Best-corrected visual acuity (BCVA) was 1.0 on both eyes. On funduscopic examination we saw a yellow round structure inferior to the optic nerve head. In optical coherence tomography (OCT) examination the structure showed cupping and opening of the Bruch membrane and retinal pigment epithelium (RPE). Visual field testing revealed an absolute scotoma right in the area were the abnormal coloboma was localized. We diagnosed a pseudo-doubling of the optic disk, which is a rare condition with just a few reports about it in the literature...
April 17, 2018: Der Ophthalmologe: Zeitschrift der Deutschen Ophthalmologischen Gesellschaft
https://www.readbyqxmd.com/read/29666476/hif1a-inactivation-rescues-photoreceptor-degeneration-induced-by-a-chronic-hypoxia-like-stress
#7
Maya Barben, Divya Ail, Federica Storti, Katrin Klee, Christian Schori, Marijana Samardzija, Stylianos Michalakis, Martin Biel, Isabelle Meneau, Frank Blaser, Daniel Barthelmes, Christian Grimm
Reduced choroidal blood flow and tissue changes in the ageing human eye impair oxygen delivery to photoreceptors and the retinal pigment epithelium. As a consequence, mild but chronic hypoxia may develop and disturb cell metabolism, function and ultimately survival, potentially contributing to retinal pathologies such as age-related macular degeneration (AMD). Here, we show that several hypoxia-inducible genes were expressed at higher levels in the aged human retina suggesting increased activity of hypoxia-inducible transcription factors (HIFs) during the physiological ageing process...
April 17, 2018: Cell Death and Differentiation
https://www.readbyqxmd.com/read/29666392/synthetic-9-cis-beta-carotene-inhibits-photoreceptor-degeneration-in-cultures-of-eye-cups-from-rpe65rd12-mouse-model-of-retinoid-cycle-defect
#8
Ifat Sher, Adi Tzameret, Sara Peri-Chen, Victoria Edelshtain, Michael Ioffe, Alon Sayer, Ludmila Buzhansky, Ehud Gazit, Ygal Rotenstreich
The retinoid cycle enzymes regenerate the visual chromophore 11-cis retinal to enable vision. Mutations in the genes encoding the proteins of the retinoid cycle are the leading cause for recessively inherited retinal dystrophies such as retinitis pigmentosa, Leber congenital amaurosis, congenital cone-rod dystrophy and fundus albipunctatus. Currently there is no treatment for these blinding diseases. In previous studies we demonstrated that oral treatment with the 9-cis-β-carotene rich Dunaliella Bardawil algae powder significantly improved visual and retinal functions in patients with retinitis pigmentosa and fundus albipunctatus...
April 17, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29666355/therapeutic-avenues-for-hereditary-forms-of-retinal-blindness
#9
Chitra Kannabiran, Indumathi Mariappan
Hereditary retinal diseases, known as retinal degenerations or dystrophies, are a large group of inherited eye disorders resulting in irreversible visual loss and blindness. They develop due to mutations in one or more genes that lead to the death of the retinal photoreceptor cells. Till date, mutations in over 200 genes are known to be associated with all different forms of retinal disorders. The enormous genetic heterogeneity of this group of diseases has posedmany challenges in understanding the mechanisms of disease and in developing suitable therapies...
March 2018: Journal of Genetics
https://www.readbyqxmd.com/read/29666121/clinical-features-and-visual-outcomes-of-111-patients-with-new-onset-acute-vogt-koyanagi-harada-disease-treated-with-pulse-intravenous-corticosteroids
#10
Makiko Nakayama, Hiroshi Keino, Takayo Watanabe, Annabelle A Okada
PURPOSE: To describe the clinical features, treatment and visual outcomes of Japanese patients with new-onset acute Vogt-Koyanagi-Harada (VKH) disease. METHODS: Clinical records of 111 patients who presented between 1999 and 2015 to the Ocular Inflammation Service of the Kyorin Eye Center, Tokyo, were reviewed. RESULTS: Of the 111 patients (68 women, 43 men), 16 had complete, 90 had incomplete and 5 had probable VKH disease. The median follow-up period was 36 months (4-175 months)...
April 17, 2018: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/29665674/hippo-signaling-circuit-and-divergent-tissue-growth-in-mammalian-eye
#11
Kyeong Hwan Moon, Jin Woo Kim
Vertebrate organ development is accompanied by demarcation of tissue compartments, which grow coordinately with their neighbors. Hence, perturbing the coordinative growth of neighboring tissue compartments frequently results in organ malformation. The growth of tissue compartments is regulated by multiple intercellular and intracellular signaling pathways, including the Hippo signaling pathway that limits the growth of various organs. In the optic neuroepithelial continuum, which is partitioned into the retina, retinal pigment epithelium (RPE) and ciliary margin (CM) during eye development, the Hippo signaling activity operates differentially, as it does in many tissues...
April 11, 2018: Molecules and Cells
https://www.readbyqxmd.com/read/29665410/the-role-of-the-rx-homeobox-gene-in-retinal-progenitor-proliferation-and-cell-fate-specification
#12
H M Rodgers, V J Huffman, V A Voronina, M Lewandoski, P H Mathers
The Retinal homeobox gene (Rx; also Rax) plays a crucial role in the early development of the vertebrate eye. Germline deletion of Rx in mice results in the failure of optic vesicle formation, leading to anophthalmia. Recent research using conditional mouse knockout models provides some clues to the role of Rx in eye development following optic vesicle formation. However, the functions of Rx in embryonic retinogenesis are still not fully understood. We investigated the function of Rx in the mouse neural retina using a conditional knockout where the Pax6α-Cre driver deletes Rx activity in early retinal progenitors...
April 14, 2018: Mechanisms of Development
https://www.readbyqxmd.com/read/29665009/localization-distribution-and-connectivity-of-neuropeptide-y-in-the-human-and-porcine-retinas-a-comparative-study
#13
Anders Tolstrup Christiansen, Jens Folke Kiilgaard, Kristian Klemp, David Paul Drucker Woldbye, Jens Hannibal
Neuropeptide Y (NPY) is a peptide neurotransmitter abundantly expressed in the mammalian retina. Since its discovery, NPY has been studied in retinas of several species, but detailed characterization of morphology, cell-type, and connectivity has never been conducted in larger mammals including humans and pigs. As the pig due to size and cellular composition is a well-suited animal for retinal research, we chose to compare the endogenous NPY system of the human retina to that of pigs to support future research in this field...
April 17, 2018: Journal of Comparative Neurology
https://www.readbyqxmd.com/read/29664989/choroidal-caverns-a-previously-unreported-optical-coherence-tomography-finding-in-best-vitelliform-dystrophy
#14
Adriano Carnevali, Riccardo Sacconi, Eleonora Corbelli, Lea Querques, Francesco Bandello, Giuseppe Querques
Best vitelliform macular dystrophy (VMD) is an autosomal dominant inherited dystrophy, most frequently caused by mutations in the BEST1 gene. The authors describe "choroidal caverns," a previously unreported optical coherence tomography finding in the choriocapillary and choroid of Best VMD. Histopathologic examination in eyes with Best VDM shows extensive deposition of lipofuscin in the retinal pigment epithelium (RPE) throughout the retina and accumulation of fibrillar material under the RPE and in the choroid...
April 1, 2018: Ophthalmic Surgery, Lasers & Imaging Retina
https://www.readbyqxmd.com/read/29664987/congenital-hypertrophy-of-the-retinal-pigment-epithelium-presenting-with-secondary-choroidal-neovascularization
#15
Robert B Garoon, J William Harbour
The authors report a case of a congenital hypertrophy of the retinal pigment epithelium (CHRPE) associated with choroidal neovascularization (CNV) causing symptomatic vision loss. Two intravitreal injections of bevacizumab (Avastin; Genentech, South San Francisco, CA) 4 weeks apart resolved the fluid and improved the visual acuity. This case demonstrates that CHRPE can rarely be complicated by CNV, which may respond to intravitreal bevacizumab therapy. [Ophthalmic Surg Lasers Imaging Retina. 2018;49:276-277...
April 1, 2018: Ophthalmic Surgery, Lasers & Imaging Retina
https://www.readbyqxmd.com/read/29664986/optical-coherence-tomography-angiography-and-ultra-widefield-optical-coherence-tomography-in-a-child-with-incontinentia-pigmenti
#16
Sang Jin Kim, Jianlong Yang, Gangjun Liu, David Huang, J Peter Campbell
Incontinentia pigmenti (IP) is a rare X-linked dominant disorder that can cause retinal nonperfusion, neovascularization, and retinal detachment. Evaluation of the peripheral retinal vasculature and appropriate treatment can reduce the risk of blindness. The authors report the use of a handheld prototype optical coherence tomography angiography (OCTA) and ultra-widefield OCT (UWF-OCT) during exam under anesthesia of a 2-year-old with a history of severe early onset IP. UWF-OCT and OCTA may be used as noninvasive imaging modalities for IP and similar retinal vascular disorders in supine young children...
April 1, 2018: Ophthalmic Surgery, Lasers & Imaging Retina
https://www.readbyqxmd.com/read/29664983/longitudinal-quantification-of-retinal-nonperfusion-in-the-macula-of-eyes-with-retinal-vein-occlusion-receiving-anti-vegf-therapy-secondary-analysis-of-the-wave-randomized-trial
#17
William C Ou, Shaun I R Lampen, Charles C Wykoff
BACKGROUND AND OBJECTIVE: Longitudinal quantification of retinal nonperfusion (RNP) in eyes with retinal vein occlusion (RVO) undergoing anti-vascular endothelial growth factor therapy. PATIENTS AND METHODS: Thirty eyes with ischemic RVO were randomized to ranibizumab (Lucentis; Genentech, South San Francisco, CA) (monotherapy) or ranibizumab plus peripheral laser (combination therapy) in a 12-month, prospective trial. RNP on fluorescein angiography was quantified within the macula through 12 months of follow-up...
April 1, 2018: Ophthalmic Surgery, Lasers & Imaging Retina
https://www.readbyqxmd.com/read/29664981/intravitreal-ziv-aflibercept-for-diabetic-macular-edema-48-week-outcomes
#18
Gabriel Costa de Andrade, João Rafael de Oliveira Dias, André Maia, Michel Eid Farah, Carsten H Meyer, Eduardo Buchele Rodrigues
BACKGROUND AND OBJECTIVE: To study the safety and efficacy of intravitreal injections of ziv-aflibercept (IVI-ZA) (Zaltrap; Sanofi-Aventis and Regeneron Pharmaceuticals, Tarrytown, NY) during a period of 48 weeks in patients with diabetic macular edema (DME). PATIENTS AND METHODS: Seven consecutive patients with DME were enrolled and submitted to 12 consecutive IVI-ZA with a 4-week interval. The safety parameters included changes in full-field electroretinogram (ERG) and systemic or ocular complications, and the efficacy parameters were the mean change from baseline in best-corrected visual acuity (BCVA) and central retinal thickness (CRT)...
April 1, 2018: Ophthalmic Surgery, Lasers & Imaging Retina
https://www.readbyqxmd.com/read/29664921/predictors-of-vision-impairment-in-multiple-sclerosis
#19
Bernardo Sanchez-Dalmau, Elena H Martinez-Lapiscina, Irene Pulido-Valdeolivas, Irati Zubizarreta, Sara Llufriu, Yolanda Blanco, Nuria Sola-Valls, Maria Sepulveda, Ana Guerrero, Salut Alba, Magi Andorra, Anna Camos, Laura Sanchez-Vela, Veronica Alfonso, Albert Saiz, Pablo Villoslada
Visual impairment significantly alters the quality of life of people with Multiple Sclerosis (MS). The objective of this study was to identify predictors (independent variables) of visual outcomes, and to define their relationship with neurological disability and retinal atrophy when assessed by optical coherence tomography (OCT). We performed a cross-sectional analysis of 119 consecutive patients with MS, assessing vision using high contrast visual acuity (LogMar), 2.5% and 1.25% low contrast visual acuity (Sloan charts), and color vision (Hardy-Rand-Rittler plates)...
2018: PloS One
https://www.readbyqxmd.com/read/29664241/surgical-management-of-coats-disease
#20
Shunji Kusaka
Coats disease is a sporadic, chronic retinal vascular disorder with telangiectatic and aneurysmal retinal vessels, with retinal exudation and retinal detachment in severe cases. Various treatment modalities have been used, including laser therapy, cryotherapy, anti‒vascular endothelial growth factor (VEGF) therapy, and surgery. Anti-VEGF therapy seems to be effective in reducing exudative changes and is often combined with other treatment modalities. For severe cases with exudative retinal detachment, external drainage of subretinal fluid with or without vitrectomy is commonly performed, combined with laser therapy and/or cryotherapy...
March 27, 2018: Asia-Pacific Journal of Ophthalmology
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