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Progress in Retinal and Eye Research

Yuriko Minegishi, Mao Nakayama, Daisuke Iejima, Kazuhide Kawase, Takeshi Iwata
Glaucoma is one of the leading causes of bilateral blindness, affecting nearly 57 million people worldwide. Glaucoma is characterized by a progressive loss of retinal ganglion cells and is often associated with intraocular pressure (IOP). Normal tension glaucoma (NTG), marked by normal IOP but progressive glaucoma, is incompletely understood. In 2002, Sarfarazi et al. identified FIP-2 gene mutations responsible for hereditary NTG, renaming this gene "optineurin" (OPTN). Further investigations by multiple groups worldwide showed that OPTN is involved in several critical cellular functions, such as NF-κB regulation, autophagy, and vesicle transport...
September 29, 2016: Progress in Retinal and Eye Research
Ronald M Hansen, Anne Moskowitz, James D Akula, Anne B Fulton
Retinopathy of prematurity (ROP) is a neurovascular disease that affects prematurely born infants and is known to have significant long term effects on vision. We conducted the studies described herein not only to learn more about vision but also about the pathogenesis of ROP. The coincidence of ROP onset and rapid developmental elongation of the rod photoreceptor outer segments motivated us to consider the role of the rods in this disease. We used noninvasive electroretinographic (ERG), psychophysical, and retinal imaging procedures to study the function and structure of the neurosensory retina...
September 23, 2016: Progress in Retinal and Eye Research
M Elizabeth Fini, Stephen G Schwartz, Xiaoyi Gao, Shinwu Jeong, Nitin Patel, Tatsuo Itakura, Marianne O Price, Francis W Price, Rohit Varma, W Daniel Stamer
Elevation of intraocular pressure (IOP) due to therapeutic use of glucocorticoids is called steroid-induced ocular hypertension (SIOH); this can lead to steroid-induced glaucoma (SIG). Glucocorticoids initiate signaling cascades ultimately affecting expression of hundreds of genes; this provides the potential for a highly personalized pharmacological response. Studies attempting to define genetic risk factors were undertaken early in the history of glucocorticoid use, however scientific tools available at that time were limited and progress stalled...
September 22, 2016: Progress in Retinal and Eye Research
Xiaowu Gu, Alaina M Reagan, Mark E McClellan, Michael H Elliott
Caveolae are specialized, invaginated plasma membrane domains that are defined morphologically and by the expression of signature proteins called, caveolins. Caveolae and caveolins are abundant in a variety of cell types including vascular endothelium, glia, and fibroblasts where they play critical roles in transcellular transport, endocytosis, mechanotransduction, cell proliferation, membrane lipid homeostasis, and signal transduction. Given these critical cellular functions, it is surprising that ablation of the caveolae organelle does not result in lethality suggesting instead that caveolae and caveolins play modulatory roles in cellular homeostasis...
September 21, 2016: Progress in Retinal and Eye Research
Paul J Donaldson, Angus C Grey, Bianca Maceo Heilman, Julie C Lim, Ehsan Vaghefi
The optical properties of the ocular lens are important to overall vision quality. As a transparent biological tissue, the lens contributes to the overall and dynamic focussing power of the eye, and corrects for optical errors introduced by the cornea. The optical properties of the lens change throughout life. Alterations to the refractive properties and transparency of the lens result in presbyopia and cataract, respectively. However, it is not well understood how changes to lens cellular structure and function initiate these changes in refraction and transparency...
September 14, 2016: Progress in Retinal and Eye Research
Mert Yanik, Brigitte Müller, Fei Song, Jacqueline Gall, Franziska Wagner, Wolfgang Wende, Birgit Lorenz, Knut Stieger
In vivo genome editing represents an emerging field in the treatment of monogenic disorders, as it may constitute a solution to the current hurdles in classic gene addition therapy, which are the low levels and limited duration of transgene expression. Following the introduction of a double strand break (DSB) at the mutational site by highly specific endonucleases, such as TALENs (transcription activator like effector nucleases) or RNA based nucleases (clustered regulatory interspaced short palindromic repeats - CRISPR-Cas), the cell's own DNA repair machinery restores integrity to the DNA strand and corrects the mutant sequence, thus allowing the cell to produce protein levels as needed...
September 10, 2016: Progress in Retinal and Eye Research
Patrice D Smith, Amanda Barber, Kyle Farmer, Keith R Martin
Over the last decade, a large number of research articles have been published demonstrating regeneration and/or neuroprotection of retinal ganglion cells following manipulation of specific genetic and molecular targets. Interestingly, of the targets that have been identified to promote repair following visual system damage, many are genes known to be mutated in different types of cancer. This review explores recent literature on the potential for modulating cancer genes as a therapeutic strategy for visual system repair and looks at the potential clinical challenges associated with implementing this type of therapy...
August 29, 2016: Progress in Retinal and Eye Research
Patricia Boya, Lorena Esteban-Martínez, Ana Serrano-Puebla, Raquel Gómez-Sintes, Beatriz Villarejo-Zori
Autophagy is a catabolic pathway that promotes the degradation and recycling of cellular components. Proteins, lipids, and even whole organelles are engulfed in autophagosomes and delivered to the lysosome for elimination. In response to stress, autophagy mediates the degradation of cell components, which are recycled to generate the nutrients and building blocks required to sustain cellular homeostasis. Moreover, it plays an important role in cellular quality control, particularly in neurons, in which the total burden of altered proteins and damaged organelles cannot be reduced by redistribution to daughter cells through cell division...
August 23, 2016: Progress in Retinal and Eye Research
Benjamin E Reese, Patrick W Keeley
The mature retinal architecture is composed of various types of neuron, each population differing in size and constrained to particular layers, wherein the cells achieve a characteristic patterning in their local organization. These demographic features of retinal nerve cell populations are each complex traits controlled by multiple genes affecting different processes during development, and their genetic determinants can be dissected by correlating variation in these traits with their genomic architecture across recombinant-inbred mouse strains...
August 1, 2016: Progress in Retinal and Eye Research
Florent Aptel, Robert N Weinreb, Christophe Chiquet, Kaweh Mansouri
Intraocular pressure (IOP) is not a fixed value and varies over both the short term and periods lasting several months or years. In particular, IOP is known to vary throughout the 24-h period of a day, defined as a nyctohemeral rhythm in humans. In clinical practice, it is crucial to evaluate the changes in IOP over 24 h in several situations, including the diagnosis of ocular hypertension and glaucoma (IOP is often higher at night) and to optimize the therapeutic management of glaucoma. Until recently, all evaluations of 24-h IOP rhythm were performed using repeated IOP measurements, requiring individuals to be awakened for nocturnal measurements...
July 28, 2016: Progress in Retinal and Eye Research
Nathan G Lambert, Hanan ElShelmani, Malkit K Singh, Fiona C Mansergh, Michael A Wride, Maximilian Padilla, David Keegan, Ruth E Hogg, Balamurali K Ambati
A biomarker can be a substance or structure measured in body parts, fluids or products that can affect or predict disease incidence. As age-related macular degeneration (AMD) is the leading cause of blindness in the developed world, much research and effort has been invested in the identification of different biomarkers to predict disease incidence, identify at risk individuals, elucidate causative pathophysiological etiologies, guide screening, monitoring and treatment parameters, and predict disease outcomes...
September 2016: Progress in Retinal and Eye Research
Roger A Astley, Phillip S Coburn, Salai Madhumathi Parkunan, Michelle C Callegan
Bacterial endophthalmitis is an infection and inflammation of the posterior segment of the eye which can result in significant loss of visual acuity. Even with prompt antibiotic, anti-inflammatory and surgical intervention, vision and even the eye itself may be lost. For the past century, experimental animal models have been used to examine various aspects of the pathogenesis and pathophysiology of bacterial endophthalmitis, to further the development of anti-inflammatory treatment strategies, and to evaluate the pharmacokinetics and efficacies of antibiotics...
September 2016: Progress in Retinal and Eye Research
Peter F Kador, Milton Wyman, Peter J Oates
Diabetes mellitus (DM) is a major health problem with devastating effects on ocular health in both industrialized and developing countries. The control of hyperglycemia is critical to minimizing the impact of DM on ocular tissues because inadequate glycemic control leads to ocular tissue changes that range from a temporary blurring of vision to permanent vision loss. The biochemical mechanisms that promote the development of diabetic complications have been extensively studied. As a result, a number of prominent biochemical pathways have been identified...
September 2016: Progress in Retinal and Eye Research
Ilene K Gipson
Goblet cells within the conjunctival epithelium are specialized cells that secrete mucins onto the surface of the eye. Recent research has demonstrated new characteristics of the cells, including factors influencing their differentiation, their gene products and their functions at the ocular surface. The following review summarizes the newly discovered aspects of the role of Spdef, a member of the Ets transcription factor family in conjunctival goblet cell differentiation, the newly discovered goblet cell products including claudin2, the Wnt inhibitor Frzb, and the transmembrane mucin Muc16...
September 2016: Progress in Retinal and Eye Research
Gonzalo Carracedo, Almudena Crooke, Ana Guzman-Aranguez, Maria J Pérez de Lara, Alba Martin-Gil, Jesús Pintor
Dinucleoside polyphosphates comprises a group of dinucleotides formed by two nucleosides linked by a variable number of phosphates, abbreviated NpnN (where n represents the number of phosphates). These compounds are naturally occurring substances present in tears, aqueous humour and in the retina. As the consequence of their presence, these dinucleotides contribute to many ocular physiological processes. On the ocular surface, dinucleoside polyphosphates can stimulate tear secretion, mucin release from goblet cells and they help epithelial wound healing by accelerating cell migration rate...
July 12, 2016: Progress in Retinal and Eye Research
William H Morgan, Martin L Hazelton, Dao-Yi Yu
Retinal vein pulsation was first noted soon after the invention of the ophthalmoscope 170 years ago and was seen to change with cerebrospinal fluid pressure (CSFP) variation in the 1920s. The classical explanation for vein pulsation was that the cardiac cycle induced systolic peak in intraocular pressure (IOP) tended to intermittently collapse the retinal vein close to its exit in the central optic disk, causing pulsation to be counter-phase to IOP. Recently, improved ophthalmodynamometry and video recording techniques have allowed us to explore the fundamentals of retinal vein pulsation...
July 11, 2016: Progress in Retinal and Eye Research
Lan Yue, James D Weiland, Botond Roska, Mark S Humayun
Retinal degeneration, a leading cause of blindness worldwide, is primarily characterized by the dysfunctional/degenerated photoreceptors that impair the ability of the retina to detect light. Our group and others have shown that bioelectronic retinal implants restore useful visual input to those who have been blind for decades. This unprecedented approach of restoring sight demonstrates that patients can adapt to new visual input, and thereby opens up opportunities to not only improve this technology but also develop alternative retinal stimulation approaches...
July 2016: Progress in Retinal and Eye Research
Sandy S C Hung, Tristan McCaughey, Olivia Swann, Alice Pébay, Alex W Hewitt
The Clustered Regularly Interspaced Short Palindromic Repeat (CRISPR) and CRISPR-associated protein (Cas) system has enabled an accurate and efficient means to edit the human genome. Rapid advances in this technology could results in imminent clinical application, and with favourable anatomical and immunological profiles, ophthalmic disease will be at the forefront of such work. There have been a number of breakthroughs improving the specificity and efficacy of CRISPR/Cas-mediated genome editing. Similarly, better methods to identify off-target cleavage sites have also been developed...
July 2016: Progress in Retinal and Eye Research
Kamron N Khan, Omar A Mahroo, Rehna S Khan, Moin D Mohamed, Martin McKibbin, Alan Bird, Michel Michaelides, Adnan Tufail, Anthony T Moore
Drusen are discussed frequently in the context of their association with age-related macular degeneration (AMD). Some types may, however, be regarded as a normal consequence of ageing; others may be observed in young age groups. They also occur in a number of inherited disorders and some systemic conditions. Whilst drusen are classically located external (sclerad) to the retinal pigment epithelium, accumulations of material internal (vitread to) this layer can display a drusen-like appearance, having been variously termed pseudodrusen or subretinal drusenoid deposits...
July 2016: Progress in Retinal and Eye Research
Nathan Efron, Noel A Brennan, Philip B Morgan, Tawnya Wilson
Some recent research has resulted in a hypothesis that there is a common 'lid wiper' region that is apposite to the ocular surface or anterior lens surface (where contact lenses are worn), responsible for spreading tears during blinking. In the upper eyelid, it extends about 0.6 mm from the crest of the sharp posterior (inner) lid border (i.e. the mucocutaneous junction, or line of Marx) to the subtarsal fold superiorly and from the medial upper punctum to the lateral canthus horizontally. Histologically, it is seen as an epithelial elevation comprising of stratified epithelium with a transitional conjunctival structure of (moving posteriorly) squamous cells then cuboidal cells, with some parakeratinised cells and goblet cells...
July 2016: Progress in Retinal and Eye Research
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