Genotype-functional-phenotype correlations in photoreceptor guanylate cyclase (GC-E) encoded by GUCY2D
Publication date: March 2018Source: Progress in Retinal and Eye Research, Volume 63Author(s): Dror Sharon, Hanna Wimberg, Yael Kinarty, Karl-Wilhelm KochAbstractThe GUCY2D gene encodes for the photoreceptor guanylate cyclase GC-E that synthesizes the intracellular messenger of photoreceptor excitation cGMP and is regulated by intracellular Ca2+-sensor proteins named guanylate cyclase-activating proteins (GCAPs). Over 140 disease-causing mutations have been described so far in GUCY2D, 88% of which cause autosomal recessive Leber congenital amaurosis (LCA) while heterozygous missense mutations cause autosomal dominant cone-r...
Source: Progress in Retinal and Eye Research - July 5, 2018 Category: Opthalmology Source Type: research

Mechanisms of macular edema: Beyond the surface
Publication date: March 2018Source: Progress in Retinal and Eye Research, Volume 63Author(s): Alejandra Daruich, Alexandre Matet, Alexandre Moulin, Laura Kowalczuk, Michaël Nicolas, Alexandre Sellam, Pierre-Raphaël Rothschild, Samy Omri, Emmanuelle Gélizé, Laurent Jonet, Kimberley Delaunay, Yvonne De Kozak, Marianne Berdugo, Min Zhao, Patricia Crisanti, Francine Behar-CohenAbstractMacular edema consists of intra- or subretinal fluid accumulation in the macular region. It occurs during the course of numerous retinal disorders and can cause severe impairment of central vision. Major causes of macular edema include diabet...
Source: Progress in Retinal and Eye Research - July 5, 2018 Category: Opthalmology Source Type: research

Editorial Board
Publication date: March 2018Source: Progress in Retinal and Eye Research, Volume 63Author(s): (Source: Progress in Retinal and Eye Research)
Source: Progress in Retinal and Eye Research - July 5, 2018 Category: Opthalmology Source Type: research

Towards the application of precision medicine in Age-Related Macular Degeneration
Publication date: March 2018Source: Progress in Retinal and Eye Research, Volume 63Author(s): Raffaella Cascella, Claudia Strafella, Valerio Caputo, Valeria Errichiello, Stefania Zampatti, Filippo Milano, Saverio Potenza, Silvestro Mauriello, Giuseppe Novelli, Federico Ricci, Andrea Cusumano, Emiliano GiardinaAbstractThe review essentially describes genetic and non-genetic variables contributing to the onset and progression of exudative Age-related Macular Degeneration (AMD) in Italian population. In particular, AMD susceptibility within Italian population is contributed to by genetic variants, accounting for 23% of diseas...
Source: Progress in Retinal and Eye Research - July 5, 2018 Category: Opthalmology Source Type: research

Molecular genetics and emerging therapies for retinitis pigmentosa: Basic research and clinical perspectives
Publication date: March 2018Source: Progress in Retinal and Eye Research, Volume 63Author(s): Marina França Dias, Kwangsic Joo, Jessica A. Kemp, Silvia Ligório Fialho, Armando da Silva Cunha, Se Joon Woo, Young Jik KwonAbstractRetinitis Pigmentosa (RP) is a hereditary retinopathy that affects about 2.5 million people worldwide. It is characterized with progressive loss of rods and cones and causes severe visual dysfunction and eventual blindness in bilateral eyes. In addition to more than 3000 genetic mutations from about 70 genes, a wide genetic overlap with other types of retinal dystrophies has been reported with RP. ...
Source: Progress in Retinal and Eye Research - July 5, 2018 Category: Opthalmology Source Type: research

Diagnosis and treatment guideline for myopic choroidal neovascularization due to pathologic myopia
Publication date: March 2018Source: Progress in Retinal and Eye Research, Volume 63Author(s): Kyoko Ohno-Matsui, Yasushi Ikuno, Timothy Y.Y. Lai, Chui Ming Gemmy CheungAbstractPathologic myopia is a leading cause of visual impairment. Development of myopic choroidal neovascularization (CNV) is one of the most common complications that leads to central vision loss in patients with pathologic myopia. If left untreated, it can cause scarring with expanding macular atrophy leading to irreversible visual loss in a period as short as 5 years. Advancements in multimodal imaging technology have furthered our understanding of the c...
Source: Progress in Retinal and Eye Research - July 5, 2018 Category: Opthalmology Source Type: research

Retinal vasculature development in health and disease
Publication date: March 2018Source: Progress in Retinal and Eye Research, Volume 63Author(s): Senthil Selvam, Tejas Kumar, Marcus FruttigerAbstractDevelopment of the retinal vasculature is based on highly coordinated signalling between different cell types of the retina, integrating internal metabolic requirements with external influences such as the supply of oxygen and nutrients. The developing mouse retinal vasculature is a useful model system to study these interactions because it is experimentally accessible for intra ocular injections and genetic manipulations, can be easily imaged and develops in a similar fashion t...
Source: Progress in Retinal and Eye Research - July 5, 2018 Category: Opthalmology Source Type: research

Re-programming immunosurveillance in persistent non-infectious ocular inflammation
Publication date: Available online 9 March 2018Source: Progress in Retinal and Eye ResearchAuthor(s): Simon J. Epps, Joanne Boldison, Madeleine L. Stimpson, Tarnjit K. Khera, Philippa J.P. Lait, David A. Copland, Andrew D. Dick, Lindsay B. NicholsonAbstractOcular function depends on a high level of anatomical integrity. This is threatened by inflammation, which alters the local tissue over short and long time-scales. Uveitis due to autoimmune disease, especially when it involves the retina, leads to persistent changes in how the eye interacts with the immune system. The normal pattern of immune surveillance, which for immu...
Source: Progress in Retinal and Eye Research - July 5, 2018 Category: Opthalmology Source Type: research

Epigenetic control of gene regulation during development and disease: A view from the retina
Publication date: Available online 12 March 2018Source: Progress in Retinal and Eye ResearchAuthor(s): Ximena Corso-Díaz, Catherine Jaeger, Vijender Chaitankar, Anand SwaroopAbstractComplex biological processes, such as organogenesis and homeostasis, are stringently regulated by genetic programs that are fine-tuned by epigenetic factors to establish cell fates and/or to respond to the microenvironment. Gene regulatory networks that guide cell differentiation and function are modulated and stabilized by modifications to DNA, RNA and proteins. In this review, we focus on two key epigenetic changes – DNA methylation and hi...
Source: Progress in Retinal and Eye Research - July 5, 2018 Category: Opthalmology Source Type: research

Ocular treatment of choroidal melanoma in relation to the prevention of metastatic death – A personal view
Publication date: Available online 20 March 2018Source: Progress in Retinal and Eye ResearchAuthor(s): Bertil DamatoAbstractAbout 50% of patients with choroidal melanoma develop metastatic disease, despite successful eradication of the primary tumor. Patient care is complicated by the fact that we do not know whether ocular treatment ever influences survival and if so in whom. Some authorities believe that metastatic spread is never preventable, because it has always occurred by the time the ocular tumor is detected. Others hold the view that metastatic spread can occur late, at least in some patients, in whom timely and s...
Source: Progress in Retinal and Eye Research - July 5, 2018 Category: Opthalmology Source Type: research

CRISPR-Cas9 genome engineering: Treating inherited retinal degeneration
Publication date: Available online 22 March 2018Source: Progress in Retinal and Eye ResearchAuthor(s): Erin R. Burnight, Joseph C. Giacalone, Jessica A. Cooke, Jessica R. Thompson, Laura R. Bohrer, Kathleen R. Chirco, Arlene V. Drack, John H. Fingert, Kristan S. Worthington, Luke A. Wiley, Robert F. Mullins, Edwin M. Stone, Budd A. TuckerAbstractGene correction is a valuable strategy for treating inherited retinal degenerative diseases, a major cause of irreversible blindness worldwide. Single gene defects cause the majority of these retinal dystrophies. Gene augmentation holds great promise if delivered early in the cours...
Source: Progress in Retinal and Eye Research - July 5, 2018 Category: Opthalmology Source Type: research

Non-syndromic retinitis pigmentosa
Publication date: Available online 27 March 2018Source: Progress in Retinal and Eye ResearchAuthor(s): Sanne K. Verbakel, Ramon A.C. van Huet, Camiel J.F. Boon, Anneke I. den Hollander, Rob W.J. Collin, Caroline C.W. Klaver, Carel B. Hoyng, Ronald Roepman, B. Jeroen KleveringAbstractRetinitis pigmentosa (RP) encompasses a group of inherited retinal dystrophies characterized by the primary degeneration of rod and cone photoreceptors. RP is a leading cause of visual disability, with a worldwide prevalence of 1:4000. Although the majority of RP cases are non-syndromic, 20–30% of patients with RP also have an associated non-...
Source: Progress in Retinal and Eye Research - July 5, 2018 Category: Opthalmology Source Type: research

The primate fovea: Structure, function and development
Publication date: Available online 30 March 2018Source: Progress in Retinal and Eye ResearchAuthor(s): Andreas Bringmann, Steffen Syrbe, Katja Görner, Johannes Kacza, Mike Francke, Peter Wiedemann, Andreas ReichenbachAbstractA fovea is a pitted invagination in the inner retinal tissue (fovea interna) that overlies an area of photoreceptors specialized for high acuity vision (fovea externa). Although the shape of the vertebrate fovea varies considerably among the species, there are two basic types. The retina of many predatory fish, reptilians, and birds possess one (or two) convexiclivate fovea(s), while the retina of hig...
Source: Progress in Retinal and Eye Research - July 5, 2018 Category: Opthalmology Source Type: research

The coma in glaucoma: Retinal ganglion cell dysfunction and recovery
Publication date: Available online 6 April 2018Source: Progress in Retinal and Eye ResearchAuthor(s): Lewis E. Fry, Eamonn Fahy, Vicki Chrysostomou, Flora Hui, Jessica Tang, Peter van Wijngaarden, Steven Petrou, Jonathan G. CrowstonAbstractRetinal ganglion cell (RGC) degeneration causes vision loss in patients with glaucoma, and this has been generally considered to be irreversible due to RGC death. We question this assertion and summarise accumulating evidence that points to visual function improving in glaucoma patients with treatment, particularly in the early stages of disease. We propose that prior to death, RGCs ente...
Source: Progress in Retinal and Eye Research - July 5, 2018 Category: Opthalmology Source Type: research

Anterior segment optical coherence tomography
Publication date: Available online 7 April 2018Source: Progress in Retinal and Eye ResearchAuthor(s): Marcus Ang, Mani Baskaran, René M. Werkmeister, Jacqueline Chua, Doreen Schmidl, Valentin Aranha dos Santos, Gerhard Garhöfer, Jodhbir S. Mehta, Leopold SchmettererAbstractOptical coherence tomography (OCT) provides non-contact, rapid in vivo imaging of ocular structures, and has become a key part of evaluating the anterior segment of the eye. Over the years, improvements to technology have increased the speed of capture and resolution of images, leading to the increasing impact of anterior segment OCT imaging on clinica...
Source: Progress in Retinal and Eye Research - July 5, 2018 Category: Opthalmology Source Type: research