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Inherited retinal diseases

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https://www.readbyqxmd.com/read/28515932/single-stage-laparoscopic-adrenalectomy-for-pheochromocytoma-and-enucleation-of-a-pancreatic-neuroendocrine-tumor-in-von-hippel-lindau-disease-a-case-report
#1
Marco Casaccia, Simona Macina, Rosario Fornaro
Von Hippel-Lindau (VHL) disease is an inherited syndrome with autosomal-dominant transmission, characterized by central nervous system and retinal hemangioblastomas, visceral cysts and tumors. Optimal surgical treatment, including its timing, remains a controversial topic. The present study reports the case of a 67-year-old female patient with adrenal and pancreatic manifestations of VHL. A laparoscopic cortex-sparing left adrenalectomy for a 4-cm pheochromocytoma and pancreatic enucleation for pancreatic polypeptidoma of the pancreas tail were performed during the same operative procedure...
May 2017: Molecular and Clinical Oncology
https://www.readbyqxmd.com/read/28511857/posterior-microphthalmos-retinitis-pigmentosa-and-optic-disc-drusen-with-white-dots-a-case-report
#2
P Plaza, O Iturralde, C Abascal
OBJECTIVE: To present the case of a patient with a posterior microphthalmos-optic disc drusen-retinitis pigmentosa syndrome associated, for the first time, with white dots in the posterior pole. METHODOLOGY: The posterior microphthalmos, retinitis pigmentosa and optic disc drusen syndrome was described for the first time in literature in 1991. Later, it was associated with a pattern of foveal thickening and/or foveoschisis. Different forms of mutations on chromosomes 11 and 14 have been identified as being responsible for the appearance of this syndrome, but the inheritance pattern is unknown...
May 13, 2017: Archivos de la Sociedad Española de Oftalmología
https://www.readbyqxmd.com/read/28511025/co-inheritance-of-the-membrane-frizzled-related-protein-ocular-phenotype-and-glycogen-storage-disease-type-ib
#3
Maha Mameesh, Anuradha Ganesh, Beena Harikrishna, Sana Al Zuhaibi, Patrick Scott, Sami Al Kalbani, Khalid Al Thihli
AIM: To report co-occurrence of two rare recessive conditions, the membrane frizzled-related protein (MFRP)-related ocular phenotype and glycogen storage disease type 1b (GSD-1b), in three siblings in an Omani family. BACKGROUND: Biallelic mutations in the MFRP gene (chromosome 11q23) result in a distinct ocular phenotype characterized by retinitis pigmentosa, foveoschisis, optic nerve head drusen, and posterior microphthalmos. GSD-1b is an autosomal-recessive disorder caused by mutations in SLC37A4 gene located in the same chromosomal region...
May 16, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28510639/toward-an-elucidation-of-the-molecular-genetics-of-inherited-retinal-degenerations
#4
G Jane Farrar, Matthew Carrigan, Adrian Dockery, Sophia Millington Ward, Arpad Palfi, Naomi Chadderton, Marian Humphries, Anna Sophia Kiang, Paul F Kenna, Pete Humphries
While individually classed as rare diseases, hereditary retinal degenerations (IRDs) are the major cause of registered visual handicap in the developed world. Given their hereditary nature, some degree of intergenic heterogeneity was expected, with genes segregating in autosomal dominant, recessive, X-linked recessive, and more rarely in digenic or mitochondrial modes. Today, it is recognized that IRDs, as a group, represent one of the most genetically diverse of hereditary conditions - at least 260 genes having been implicated, with 70 genes identified in the most common IRD, retinitis pigmentosa (RP)...
May 16, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28499933/major-review-molecular-genetics-of-primary-open-angle-glaucoma
#5
REVIEW
Yutao Liu, R Rand Allingham
Glaucoma is a leading cause of irreversible blindness worldwide. Primary open-angle glaucoma (POAG), the most common type, is a complex inherited disorder that is characterized by progressive retinal ganglion cell death, optic nerve head excavation, and visual field loss. The discovery of a large, and growing, number of genetic and chromosomal loci has been shown to contribute to POAG risk, which carry implications for disease pathogenesis. Differential gene expression analyses in glaucoma-affected tissues as well as animal models of POAG are enhancing our mechanistic understanding in this common, blinding disorder...
May 9, 2017: Experimental Eye Research
https://www.readbyqxmd.com/read/28495882/endoplasmic-reticulum-er-ca-2-channel-activity-contributes-to-er-stress-and-cone-death-in-cyclic-nucleotide-gated-channel-deficiency
#6
Michael R Butler, Hongwei Ma, Fan Yang, Joshua Belcher, Yun-Zheng Le, Katsuhiko Mikoshiba, Martin Biel, Stylianos Michalakis, Anthony Iuso, David Krizaj, Xi-Qin Ding
Endoplasmic reticulum (ER) stress and mislocalization of improperly folded proteins have been shown to contribute to photoreceptor death in models of inherited retinal degenerative diseases. In particular, mice with cone cyclic nucleotide-gated (CNG) channel deficiency, a model for achromatopsia, display both early-onset ER stress and opsin mistrafficking. By 2 weeks, these mice show elevated signaling from all three arms of the ER stress pathway, and by 1 month, cone opsin is improperly distributed away from its normal outer segment location to other retinal layers...
May 11, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28491015/protocols-for-visually-guided-navigation-assessment-of-efficacy-of-retina-directed-cell-or-gene-therapy-in-canines
#7
Puya Aravand, Pavitra S Ramachandran, Ivan Schpylchak, Nicholas T Phelps, Sergei Nikonov, Jean Bennett
There has been marked progress in recent years in developing gene delivery approaches for the treatment of inherited blinding diseases. Many of the proof-of-concept studies have utilized rodent models of retinal degeneration. In those models, tests of visual function include a modified water maze swim test, optokinetic nystagmus, and light-dark activity assays. Test paradigms used in rodents can be difficult to replicate in large animals due to their size and awareness of non-visual aspects of the test system...
2017: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/28490005/opposing-effects-of-valproic-acid-treatment-mediated-by-histone-deacetylase-inhibitor-activity-in-four-transgenic-x-laevis-models-of-retinitis-pigmentosa
#8
Ruanne Y J Vent-Schmidt, Runxia H Wen, Zusheng Zong, Colette N Chiu, Beatrice M Tam, Christopher G May, Orson L Moritz
Retinitis pigmentosa (RP) is an inherited retinal degeneration (RD) that leads to blindness for which no treatment is available. RP is frequently caused by mutations in Rhodopsin; in some animal models, RD is exacerbated by light. Valproic acid (VPA) is a proposed treatment for RP and other neurodegenerative disorders, with a phase II trial for RP under way. However, the therapeutic mechanism is unclear, with minimal research supporting its use in RP. We investigated the effects of VPA on Xenopus laevis models of RP expressing human P23H, T17M, T4K, and Q344ter rhodopsins, which are associated with RP in humans...
January 25, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28488341/next-generation-sequencing-targeted-disease-panel-in-rod-cone-retinal-dystrophies-in-m%C3%A4-ori-and-polynesian-reveals-novel-changes-and-a-common-founder-mutation
#9
Andrea L Vincent, Nandoun Abeysekera, Katherine A van Bysterveldt, Verity F Oliver, Jamie M Ellingford, Stephanie Barton, Graeme Cm Black
IMPORTANCE: This study identifies unique genetic variation observed in a cohort of Māori and Polynesian patients with rod-cone retinal dystrophies using a targeted Next Generation Sequencing (NGS) retinal disease gene panel BACKGROUND: With over 250 retinal disease genes identified, genetic diagnosis is still only possible in 60-70% of individuals, and even less within unique ethnic groups. DESIGN: Prospective genetic testing in patients with rod-cone retinal dystrophies identified from the New Zealand Inherited Retinal Disease (IRD) Database, PARTICIPANTS: Sixteen Patients of Māori and Polynesian ancestry...
May 9, 2017: Clinical & Experimental Ophthalmology
https://www.readbyqxmd.com/read/28488258/optical-coherence-tomography-as-a-marker-of-neurodegeneration-in-patients-with-wilson-s-disease
#10
Ewa Langwińska-Wośko, Tomasz Litwin, Karolina Dzieżyc, Michał Karlinski, Anna Członkowska
Wilson's disease (WD) is an inherited autosomal recessive disorder that leads to pathological copper accumulation in different organs. Optical coherence tomography (OCT) is proposed as a marker of neurodegeneration in many neurological diseases. Thinning of the total retinal nerve fiber layer (RNFL) and macular thickness (Mth) examined by OCT was detected in patients with WD, especially those with brain magnetic resonance imaging changes. The aim of this study was to evaluate the relationship between OCT parameters and the progression of neurological signs measured by the Unified Wilson's Disease Rating Scale (UWDRS) in patients with WD...
May 9, 2017: Acta Neurologica Belgica
https://www.readbyqxmd.com/read/28483568/mathematical-models-of-retinitis-pigmentosa-the-oxygen-toxicity-hypothesis
#11
Paul A Roberts, Eamonn A Gaffney, Philip J Luthert, Alexander J E Foss, Helen M Byrne
The group of genetically mediated diseases, known collectively as retinitis pigmentosa (RP), cause retinal degeneration and, hence, loss of vision. The most common inherited retinal degeneration, RP is currently untreatable. The retina detects light using cells known as photoreceptors, of which there are two types: rods and cones. In RP, genetic mutations cause patches of photoreceptors to degenerate and typically directly affect either rods or cones, but not both. During disease progression, degenerate patches spread and the unaffected photoreceptor type also begins to degenerate...
May 6, 2017: Journal of Theoretical Biology
https://www.readbyqxmd.com/read/28481993/inherited-eye-related-disorders-due-to-mitochondrial-dysfunction
#12
Patrick Yu-Wai-Man, Nancy J Newman
Genetic disorders due to mitochondrial dysfunction are not uncommon and the majority of these patients will have eye-related manifestations, including visual loss from optic nerve and retinal disease, visual field loss from retrochiasmal visual pathway damage, and ptosis and ocular dysmotility from extraocular muscle involvement. Defects in both the nuclear and mitochondrial genomes cause mitochondrial dysfunction via several mechanisms, including impaired mitochondrial energy production, oxidative stress, mitochondrial DNA instability, abnormalities in the regulation of mitochondrial dynamics and mitochondrial quality control, and disturbed cellular interorganellar communication...
May 8, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28481155/a-unique-case-series-of-autosomal-recessive-bestrophinopathy-exhibiting-multigenerational-inheritance
#13
Joshua S Hardin, G Bradley Schaefer, Ahmed B Sallam, M Kathryn Williams, Sami Uwaydat
INTRODUCTION: Autosomal recessive bestrophinopathy (ARB) is a retinal disease caused by biallelic mutations of the BEST1 gene. It has a variable phenotype with white flecks in the retina, multifocal yellow subretinal deposits, macular edema, choroidal neovascularization, hyperopia, and electrophysiological abnormalities. We describe a family with ARB and multigenerational inheritance. METHODS: Three generations of a Middle Eastern family (a woman, one son, and two grandchildren) were evaluated by our ocular genetics team...
May 8, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28475715/reep6-deficiency-leads-to-retinal-degeneration-through-disruption-of-er-homeostasis-and-protein-trafficking
#14
Smriti A Agrawal, Thomas Burgoyne, Aiden Eblimit, James Bellingham, David A Parfitt, Amelia Lane, Ralph Nichols, Chinwe Asomugha, Matthew J Hayes, Peter M Munro, Mingchu Xu, Keqing Wang, Clare E Futter, Yumei Li, Rui Chen, Michael E Cheetham
Retinitis pigmentosa (RP) is the most common form of inherited retinal dystrophy. We recently identified mutations in REEP6, which encodes the receptor expression enhancing protein 6, in several families with autosomal recessive RP. REEP6 is related to the REEP and Yop1p family of ER shaping proteins and potential receptor accessory proteins, but the role of REEP6 in the retina is unknown. Here we characterise the disease mechanisms associated with loss of REEP6 function using a Reep6 knockout mouse generated by CRISPR/Cas9 gene editing...
May 5, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28471458/comprehensive-analysis-of-mouse-retinal-mononuclear-phagocytes
#15
Anika Lückoff, Rebecca Scholz, Florian Sennlaub, Heping Xu, Thomas Langmann
The innate immune system is activated in a number of degenerative and inflammatory retinal disorders such as age-related macular degeneration (AMD). Retinal microglia, choroidal macrophages, and recruited monocytes, collectively termed 'retinal mononuclear phagocytes', are critical determinants of ocular disease outcome. Many publications have described the presence of these cells in mouse models for retinal disease; however, only limited aspects of their behavior have been uncovered, and these have only been uncovered using a single detection method...
June 2017: Nature Protocols
https://www.readbyqxmd.com/read/28468800/genetic-rescue-models-refute-nonautonomous-rod-cell-death-in-retinitis-pigmentosa
#16
Susanne F Koch, Jimmy K Duong, Chun-Wei Hsu, Yi-Ting Tsai, Chyuan-Sheng Lin, Christian A Wahl-Schott, Stephen H Tsang
Retinitis pigmentosa (RP) is an inherited neurodegenerative disease, in which the death of mutant rod photoreceptors leads secondarily to the non-cell autonomous death of cone photoreceptors. Gene therapy is a promising treatment strategy. Unfortunately, current methods of gene delivery treat only a fraction of diseased cells, yielding retinas that are a mosaic of treated and untreated rods, as well as cones. In this study, we created two RP mouse models to test whether dying, untreated rods negatively impact treated, rescued rods...
May 3, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28467418/a-kcnc3-mutation-causes-a-neurodevelopmental-non-progressive-sca13-subtype-associated-with-dominant-negative-effects-and-aberrant-egfr-trafficking
#17
Swati Khare, Jerelyn A Nick, Yalan Zhang, Kira Galeano, Brittany Butler, Habibeh Khoshbouei, Sruti Rayaprolu, Tyisha Hathorn, Laura P W Ranum, Lisa Smithson, Todd E Golde, Martin Paucar, Richard Morse, Michael Raff, Julie Simon, Magnus Nordenskjöld, Karin Wirdefeldt, Diego E Rincon-Limas, Jada Lewis, Leonard K Kaczmarek, Pedro Fernandez-Funez, Harry S Nick, Michael F Waters
The autosomal dominant spinocerebellar ataxias (SCAs) are a diverse group of neurological disorders anchored by the phenotypes of motor incoordination and cerebellar atrophy. Disease heterogeneity is appreciated through varying comorbidities: dysarthria, dysphagia, oculomotor and/or retinal abnormalities, motor neuron pathology, epilepsy, cognitive impairment, autonomic dysfunction, and psychiatric manifestations. Our study focuses on SCA13, which is caused by several allelic variants in the voltage-gated potassium channel KCNC3 (Kv3...
2017: PloS One
https://www.readbyqxmd.com/read/28463998/plasma-metabolomics-reveals-a-diagnostic-metabolic-fingerprint-for-mitochondrial-aconitase-aco2-deficiency
#18
Lucia Abela, Ronen Spiegel, Lisa M Crowther, Andrea Klein, Katharina Steindl, Sorina Mihaela Papuc, Pascal Joset, Yoav Zehavi, Anita Rauch, Barbara Plecko, Thomas Luke Simmons
Mitochondrial respiratory chain dysfunction has been identified in a number of neurodegenerative disorders. Infantile cerebellar-retinal degeneration associated with mutations in the mitochondrial aconitase 2 gene (ACO2) has been recently described as a neurodegenerative disease of autosomal recessive inheritance. To date there is no biomarker for ACO2 deficiency and diagnosis relies on genetic analysis. Here we report global metabolic profiling in eight patients with ACO2 deficiency. Using an LC-MS-based metabolomics platform we have identified several metabolites with affected plasma concentrations including the tricarboxylic acid cycle metabolites cis-aconitate, isocitrate and alpha-ketoglutarate, as well as phosphoenolpyruvate and hydroxybutyrate...
2017: PloS One
https://www.readbyqxmd.com/read/28462455/a-novel-mertk-mutation-causing-retinitis-pigmentosa
#19
Hasenin Al-Khersan, Kaanan P Shah, Segun C Jung, Alex Rodriguez, Ravi K Madduri, Michael A Grassi
PURPOSE: Retinitis pigmentosa (RP) is a genetically heterogeneous inherited retinal dystrophy. To date, over 80 genes have been implicated in RP. However, the disease demonstrates significant locus and allelic heterogeneity not entirely captured by current testing platforms. The purpose of the present study was to characterize the underlying mutation in a patient with RP without a molecular diagnosis after initial genetic testing. METHODS: Whole-exome sequencing of the affected proband was performed...
May 1, 2017: Graefe's Archive for Clinical and Experimental Ophthalmology
https://www.readbyqxmd.com/read/28461736/intersession-test-retest-variability-of-10-2-maia-microperimetry-in-fixation-threatening-glaucoma
#20
Evan N Wong, William H Morgan, Fred K Chen
PURPOSE: To determine the intersession test-retest variability (TRV) of CenterVue Macular Integrity Assessment (MAIA) microperimeter in glaucoma patients with fixation-threatening field defects. METHODS: This is a prospective case-control study of 27 participants consisting of 13 patients with stable primary open-angle glaucoma and 14 control subjects including 5 healthy individuals and 9 retinal patients (5 with non-neovascular age-related macular degeneration and 4 with inherited retinal disease)...
2017: Clinical Ophthalmology
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