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Raffaele Nuzzi, Simona Scalabrin, Alice Becco, Giancarlo Panzica
Aim: Gonadal hormones are essential for reproductive function, but can act on neural and other organ systems, and are probably the cause of the large majority of known sex differences in function and disease. The aim of this review is to provide evidence for this hypothesis in relation to eye disorders and to retinopathies in particular. Methods: Epidemiological studies and research articles were reviewed. Results: Analysis of the biological basis for a relationship between eye diseases and hormones showed that estrogen, androgen, and progesterone receptors are present throughout the eye and that these steroids are locally produced in ocular tissues...
2018: Frontiers in Endocrinology
John J McMurtrey, Mark O M Tso
Most patients suffering from retinitis pigmentosa (RP) inherit the disorder; however, the immune-pathologic features associated with this disease have yet to be extensively studied. Six reports correlate anti-retinal immune activity with vision deterioration in RP patients. Some of these patients have sporadic RP that occurs in excess of expected gene segregation during inheritance. The hypothesis that a primary immune-mediated disease process occurs in this sporadic group is supported by significant associations of RP with autoimmune endocrinopathies and other immune related conditions or factors; however, no immunologic difference regarding RP family history is reported in the peripheral blood studies of RP patients...
March 15, 2018: Survey of Ophthalmology
Jesse D Sengillo, Winston Lee, Takayuki Nagasaki, Kaspar Schuerch, Lawrence A Yannuzzi, K Bailey Freund, Janet Sparrow, Rando Allikmets, Stephen H Tsang
PURPOSE: Mutations in the eyes shut homolog (EYS) gene are a frequent cause of autosomal recessive retinitis pigmentosa (arRP). This study used multi-modal retinal imaging to elucidate genotype-phenotype relationships in EYS-related RP (EYS-RP). DESIGN: Cross-sectional study. METHOD: Multimodal retinal imaging and electrophysiologic testing was assessed for 16 patients with genetic confirmation of EYS-RP. RESULTS: A total of 27 unique EYS variants were identified in 16 patients...
March 14, 2018: American Journal of Ophthalmology
Umut Arslan, Emin Özmert, Sibel Demirel, Firdevs Örnek, Figen Şermet
PURPOSE: One of the main reasons for apoptosis and dormant cell phases in degenerative retinal diseases such as retinitis pigmentosa (RP) is growth factor withdrawal in the cellular microenvironment. Growth factors and neurotrophins can significantly slow down retinal degeneration and cell death in animal models. One possible source of autologous growth factors is platelet-rich plasma. The purpose of this study was to determine if subtenon injections of autologous platelet-rich plasma (aPRP) can have beneficial effects on visual function in RP patients by reactivating dormant photoreceptors...
March 15, 2018: Graefe's Archive for Clinical and Experimental Ophthalmology
Peng Yong Sim, V Swetha E Jeganathan, Alan F Wright, Peter Cackett
This case report depicts the clinical course of a female patient with unilateral retinitis pigmentosa, who first presented at the age of 12 years. Fundus photography at the time revealed unilateral pigmentary retinopathy, which was associated with extinguished electroretinogram (ERG) signal. At 35 years of age, fundus examination revealed deterioration of pre-existing unilateral pigmentary retinopathy with progressive visual field defect detected on Goldmann visual field testing. ERG findings remained unchanged and multifocal ERG showed unilateral decrease in amplitude in the affected eye...
March 15, 2018: BMJ Case Reports
Rehan M Hussain, Ninel Z Gregori, Thomas A Ciulla, Byron L Lam
Pharmacotherapy with visual cycle modulators (VCMs) is under investigation for retinitis pigmentosa (RP), Leber congenital amaurosis (LCA), Stargardt macular dystrophy (SMD) and nonexudative age-related macular degeneration (AMD), all blinding diseases that lack effective treatment options. Areas covered: The authors review investigational VCMs, including oral retinoids, 9-cis-retinyl-acetate (zuretinol) and 9-cis-β-carotene, which restore 11-cis-retinal levels in RP and LCA caused by LRAT and RPE65 gene mutations, and may improve visual acuity and visual fields...
March 15, 2018: Expert Opinion on Pharmacotherapy
Mays Talib, Mary J van Schooneveld, Alberta A Thiadens, Marta Fiocco, Jan Wijnholds, Ralph J Florijn, Nicoline E Schalij-Delfos, Maria M van Genderen, Hein Putter, Frans P M Cremers, Gislin Dagnelie, Jacoline B Ten Brink, Caroline C W Klaver, L Ingeborgh van den Born, Carel B Hoyng, Arthur A Bergen, Camiel J F Boon
PURPOSE: To describe the phenotype and clinical course of patients with RPGR-associated retinal dystrophies, and to identify genotype-phenotype correlations. METHODS: A multicenter medical records review of 74 male patients with RPGR-associated retinal dystrophies. RESULTS: Patients had retinitis pigmentosa (RP; n = 52; 70%), cone dystrophy (COD; n = 5; 7%), or cone-rod dystrophy (CORD; n = 17; 23%). The median follow-up time was 11.6 years (range 0-57...
March 8, 2018: Retina
Katrin Gekeler, Karl Ulrich Bartz-Schmidt, Helmut Sachs, Robert E MacLaren, Katarina Stingl, Eberhart Zrenner, Florian Gekeler
PURPOSE OF REVIEW: The purpose of this review is to provide an update on the efforts to restore vision through subretinal implants in patients with degenerative retinal diseases. In addition to the current technique and its latest improvements, it will focus on the surgical technique of implantation as well as explantation and reimplantation. RECENT FINDINGS: The durability of the current subretinal implant RETINA IMPLANT Alpha AMS has increased substantially compared with the predecessor model RETINA IMPLANT Alpha IMS...
March 9, 2018: Current Opinion in Ophthalmology
Wen-Li Deng, Mei-Ling Gao, Xin-Lan Lei, Ji-Neng Lv, Huan Zhao, Kai-Wen He, Xi-Xi Xia, Ling-Yun Li, Yu-Chen Chen, Yan-Ping Li, Deng Pan, Tian Xue, Zi-Bing Jin
Retinitis pigmentosa (RP) is an irreversible, inherited retinopathy in which early-onset nyctalopia is observed. Despite the genetic heterogeneity of RP, RPGR mutations are the most common causes of this disease. Here, we generated induced pluripotent stem cells (iPSCs) from three RP patients with different frameshift mutations in the RPGR gene, which were then differentiated into retinal pigment epithelium (RPE) cells and well-structured retinal organoids possessing electrophysiological properties. We observed significant defects in photoreceptor in terms of morphology, localization, transcriptional profiling, and electrophysiological activity...
February 28, 2018: Stem Cell Reports
L L Xie, B Jiang
As a programmed cell death manner which is distinguished from apoptosis and autophagy, necroptosis is a newly discovered pathway of regulated necrosis that requires the protein receptor interacting protein kinases 1 and 3 and mixed lineage kinase domain-like protein. Necroptosis is mediated by death receptors, toll-like receptors and probably other mediators. Emerging evidences have delineated that necroptosis plays an important role in the occurrence and development of various blinding eye diseases. In this review, the related mechanism of necroptosis, the relationship between necroptosis and multiple blinding eye diseases, such as age-related macular degeneration, retinitis pigmentosa and glaucoma, and the potential therapeutic targets of necroptosis are discussed...
March 11, 2018: [Zhonghua Yan Ke za Zhi] Chinese Journal of Ophthalmology
Elaine M Wells-Gray, Stacey S Choi, Robert J Zawadzki, Susanna C Finn, Cherry Greiner, John S Werner, Nathan Doble
We have designed and implemented a dual-mode adaptive optics (AO) imaging system that combines spectral domain optical coherence tomography (OCT) and scanning laser ophthalmoscopy (SLO) for in vivo imaging of the human retina. The system simultaneously acquires SLO frames and OCT B-scans at 60 Hz with an OCT volume acquisition time of 4.2 s. Transverse eye motion measured from the SLO is used to register the OCT B-scans to generate three-dimensional (3-D) volumes. Key optical design considerations include: minimizing system aberrations through the use of off-axis relay telescopes, conjugate pupil plane requirements, and the use of dichroic beam splitters to separate and recombine the OCT and SLO beams around the nonshared horizontal scanning mirrors...
March 2018: Journal of Biomedical Optics
Rossiana I Bojinova, Daniel F Schorderet, Christophe Valmaggia, Cengiz Türksever, Andreas Schoetzau, Margarita G Todorova
PURPOSE: Primary objective-to investigate the effect of retinal vessel oxygen saturation (SO2 ) on macular oedema (ME) in retinitis pigmentosa (RP) patients. Secondary objective-to link the presence of ME to metabolic (oxygen saturation of retinal vessels, SO2 ), functional (multifocal electroretinography, mfERG) and structural (Spectral Domain Optical Coherent Tomography, SD-OCT) alterations in RP. DESIGN: Prospective, cross-sectional, non-interventional study...
March 6, 2018: Eye
Agustina Noailles, Victoria Maneu, Laura Campello, Pedro Lax, Nicolás Cuenca
Retinal neurodegenerative diseases involve a scenario of inflammation and cell death that leads to morphological alterations and visual impairment. Non-ocular inflammatory processes could affect neurodegenerative retinal disorders and their progression, at least in part by activating microglial cells and releasing pro-inflammatory cytokines. Our purpose was to study the consequences of a systemic inflammatory process in the progression of retinal degeneration in P23H rats, a retinitis pigmentosa (RP) model...
March 2, 2018: Cell Death & Disease
Seiji Takagi, Yasuhiko Hirami, Masayo Takahashi, Masashi Fujihara, Michiko Mandai, Chisato Miyakoshi, Goji Tomita, Yasuo Kurimoto
PURPOSE: To investigate flow area changes measured using optical coherence tomography angiography (OCTA; RTVue XR Avanti® ) in patients with retinitis pigmentosa (RP) with preserved visual acuity (VA). METHODS: This was an age- and refraction-matched case-control study. Consecutive patients with a best-corrected visual acuity (BCVA) of ≥20/20 and normal subjects were recruited. Fifty eyes (32 patients) and 22 eyes (12 controls) were included. The flow area and foveal avascular zone (FAZ) were measured in both superficial and deep layers within a 3 × 3 mm central area of the fovea...
March 1, 2018: Acta Ophthalmologica
Katherine M Stiff, Philip R Cohen
Scabies, a mite infestation caused by 'Sarcoptes scabiei', most commonly presents as pruritic linear burrows where the mite has invaded the skin. Scabies variant such as bullous, crusted, hidden, incognito, nodular and scalp-mimic the other conditions. In addition, atypical presentations of scabies can masquerade as dermatitis herpetiformis, ecchymosis, Langerhans cell histiocytosis, systemic lupus erythematosus, urticaria, and urticaria pigmentosa. A 59-year-old male presented with non-pruritic papulosquamous plaques on his chest, abdomen, and back resembling lesions of pityriasis rosea in morphology and distribution...
December 19, 2017: Curēus
Yusuke Murakami, Jun Funatsu, Shunji Nakatake, Kohta Fujiwara, Takashi Tachibana, Yoshito Koyanagi, Toshio Hisatomi, Shigeo Yoshida, Shozo Sonoda, Taiji Sakamoto, Koh-Hei Sonoda, Yasuhiro Ikeda
Purpose: To investigate the relationships between foveal blood flow as measured by laser speckle flowgraphy (LSFG), the retinal-choroidal structure in enhanced depth imaging-optical coherence tomography (EDI-OCT), and central visual function in patients with retinitis pigmentosa (RP). Methods: We studied 52 consecutive typical RP patients ≤50 years old and 21 age- and sex-matched controls. The mean blur rate (MBR), which represents the blood flow volume, was calculated in a 2...
February 1, 2018: Investigative Ophthalmology & Visual Science
Fabio Benfenati, Guglielmo Lanzani
Inherited or age-dependent retinal dystrophies such as Retinitis pigmentosa (RP) and macular degeneration (MD) are among the most prevalent causes of blindness. Despite enormous efforts, no established pharmacological treatment to prevent or cure photoreceptor degeneration has been identified. Given the relative survival of the inner retina, attempts have been made to restore vision with optogenetics or with retinal neuroprostheses to allow light-dependent stimulation of the inner retinal network. While microelectrode and photovoltaic devices based on inorganic technologies have been proposed and in many cases implanted in RP patients, a new generation of prosthetics based on organic molecules, such as organic photoswitches and conjugated polymers, is demonstrating an unexpected potential for visual rescue and intimate interactions with functioning tissue...
February 26, 2018: Lab Animal
Shou-Long Hu, Chao-Pan Zheng
As a severe photoreceptor-degenerative disease, retinitis pigmentosa is currently incurable and eventually leads to partial or complete blindness. (3R)-5,6,7-trihydroxy-3-isopropyl-3-methylisochroman-1-one (TIM) is a novel antioxidant isolated from the plant of Alpinia katsumadai Hayata, with protective effects on photoreceptor cells against lipoteichoic acid-induced damage through inhibiting oxidative stress. The present study was to further demonstrate whether TIM could ameliorate retinal degeneration of rd10 mice, a mouse model of retinitis pigmentosa...
February 25, 2018: Cutaneous and Ocular Toxicology
Rahul Mittal, Nicole Bencie, James M Parrish, George Liu, Jeenu Mittal, Denise Yan, Xue Zhong Liu
No abstract text is available yet for this article.
2018: Frontiers in Genetics
Shijie Zheng, Lirong Xiao, Yu Liu, Yujiao Wang, Lin Cheng, Junjun Zhang, Naihong Yan, Danian Chen
Retinitis pigmentosa (RP) is a group of inherited retinal degenerative diseases causing progressive loss of photoreceptors. Numerous gene mutations are identified to be related with RP, but epigenetic modifications may also be involved in the pathogenesis. Previous studies suggested that both DNA methylation and histone acetylation regulate photoreceptor cell death in RP mouse models. However, the role of histone methylation in RP has never been investigated. In this study, we found that trimethylation of several lysine sites of histone H3, including lysine 27 (H3K27me3), increased in the retinas of rd1 mice...
February 22, 2018: Cell Death & Disease
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