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Retinitis pigmentosa

Katharina Dannhausen, Khalid Rashid, Thomas Langmann
Microgliosis is a hallmark of degenerative processes in the retina. Reactive microglia migrate to the photoreceptor layer and the subretinal space during outer retinal degeneration. This process creates a toxic milieu where reactive microglia and dying photoreceptors recruit additional reactive phagocytes. This results in the release of a multitude of proinflammatory factors which accelerate photoreceptor demise. In this chapter, we outline in detail how to monitor microgliosis in the Fam161a-deficient mouse model of Retinitis Pigmentosa by performing immunohistochemical stainings of retinal cryosections and flat mounts using the marker Iba1...
2018: Methods in Molecular Biology
Tomoko Hasegawa, Hanako Ohashi Ikeda, Sachiko Iwai, Yuki Muraoka, Tatsuaki Tsuruyama, Keiko Okamoto-Furuta, Haruyasu Kohda, Akira Kakizuka, Nagahisa Yoshimura
Retinal neuronal cell death underlies many incurable eye diseases such as retinitis pigmentosa (RP) and glaucoma, and causes adult blindness. We have shown that maintenance of ATP levels via inhibiting ATP consumption is a promising strategy for preventing neuronal cell death. Here, we show that branched chain amino acids (BCAAs) are able to increase ATP production by enhancing glycolysis. In cell culture, supplementation of the culture media with BCAAs, but not glucose alone, enhanced cellular ATP levels, which was canceled by a glycolysis inhibitor...
February 2018: Heliyon
Maria L Stunkel, Scott E Brodie, Artur V Cideciyan, Wanda L Pfeifer, Elizabeth L Kennedy, Edwin M Stone, Samuel G Jacobson, Arlene V Drack
PURPOSE: GUCY2D has been associated with autosomal recessive Leber Congenital Amaurosis and autosomal dominant cone-rod dystrophy. This report expands the phenotype of autosomal recessive mutations to congenital night blindness which may slowly progress to retinitis pigmentosa. DESIGN: Retrospective case series. METHODS: Multicenter study of five patients (3 male, 2 female). RESULTS: All presented with night blindness since childhood...
March 17, 2018: American Journal of Ophthalmology
Johannes Birtel, Tobias Eisenberger, Martin Gliem, Philipp L Müller, Philipp Herrmann, Christian Betz, Diana Zahnleiter, Christine Neuhaus, Steffen Lenzner, Frank G Holz, Elisabeth Mangold, Hanno J Bolz, Peter Charbel Issa
Macular and cone/cone-rod dystrophies (MD/CCRD) demonstrate a broad genetic and phenotypic heterogeneity, with retinal alterations solely or predominantly involving the central retina. Targeted next-generation sequencing (NGS) is an efficient diagnostic tool for identifying mutations in patient with retinitis pigmentosa, which shows similar genetic heterogeneity. To detect the genetic causes of disease in patients with MD/CCRD, we implemented a two-tier procedure consisting of Sanger sequencing and targeted NGS including genes associated with clinically overlapping conditions...
March 19, 2018: Scientific Reports
Daniel Mattle, Bernd Kuhn, Johannes Aebi, Marc Bedoucha, Demet Kekilli, Nathalie Grozinger, Andre Alker, Markus G Rudolph, Georg Schmid, Gebhard F X Schertler, Michael Hennig, Jörg Standfuss, Roger J P Dawson
In the degenerative eye disease retinitis pigmentosa (RP), protein misfolding leads to fatal consequences for cell metabolism and rod and cone cell survival. To stop disease progression, a therapeutic approach focuses on stabilizing inherited protein mutants of the G protein-coupled receptor (GPCR) rhodopsin using pharmacological chaperones (PC) that improve receptor folding and trafficking. In this study, we discovered stabilizing nonretinal small molecules by virtual and thermofluor screening and determined the crystal structure of pharmacologically stabilized opsin at 2...
March 19, 2018: Proceedings of the National Academy of Sciences of the United States of America
Roy Tan, Rupesh Agrawal, Swathi Taduru, Arushi Gupta, Kiran Vupparaboina, Jay Chhablani
BACKGROUND AND OBJECTIVE: To evaluate structural changes in the choroid of patients with retinitis pigmentosa (RP) using swept-source optical coherence tomography (OCT) scans. PATIENTS AND METHODS: A prospective study was conducted comparing 35 eyes of 35 patients with RP and 26 eyes of 26 normal patients. OCT images of the choroid were binarized into luminal and stromal areas to derive choroidal vascularity index (CVI). Subfoveal choroidal thickness (CT) was also measured and compared...
March 1, 2018: Ophthalmic Surgery, Lasers & Imaging Retina
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
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