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Inherited retinal diseases

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https://www.readbyqxmd.com/read/27911706/using-induced-pluripotent-stem-cells-to-understand-retinal-ciliopathy-disease-mechanisms-and-develop-therapies
#1
REVIEW
David A Parfitt, Amelia Lane, Conor Ramsden, Katarina Jovanovic, Peter J Coffey, Alison J Hardcastle, Michael E Cheetham
The photoreceptor cells in the retina have a highly specialised sensory cilium, the outer segment (OS), which is important for detecting light. Mutations in cilia-related genes often result in retinal degeneration. The ability to reprogramme human cells into induced pluripotent stem cells and then differentiate them into a wide range of different cell types has revolutionised our ability to study human disease. To date, however, the challenge of producing fully differentiated photoreceptors in vitro has limited the application of this technology in studying retinal degeneration...
October 15, 2016: Biochemical Society Transactions
https://www.readbyqxmd.com/read/27911705/disease-mechanisms-of-x-linked-retinitis-pigmentosa-due-to-rp2-and-rpgr-mutations
#2
REVIEW
Rodanthi Lyraki, Roly Megaw, Toby Hurd
Photoreceptor degeneration is the prominent characteristic of retinitis pigmentosa (RP), a heterogeneous group of inherited retinal dystrophies resulting in blindness. Although abnormalities in many pathways can cause photoreceptor degeneration, one of the most important causes is defective protein transport through the connecting cilium, the structure that connects the biosynthetic inner segment with the photosensitive outer segment of the photoreceptors. The majority of patients with X-linked RP have mutations in the retinitis pigmentosa GTPase regulator (RPGR) or RP2 genes, the protein products of which are both components of the connecting cilium and associated with distinct mechanisms of protein delivery to the outer segment...
October 15, 2016: Biochemical Society Transactions
https://www.readbyqxmd.com/read/27905547/in-silico-mapping-of-protein-unfolding-mutations-for-inherited-disease
#3
Caitlyn L McCafferty, Yuri V Sergeev
The effect of disease-causing missense mutations on protein folding is difficult to evaluate. To understand this relationship, we developed the unfolding mutation screen (UMS) for in silico evaluation of the severity of genetic perturbations at the atomic level of protein structure. The program takes into account the protein-unfolding curve and generates propensities using calculated free energy changes for every possible missense mutation at once. These results are presented in a series of unfolding heat maps and a colored protein 3D structure to show the residues critical to the protein folding and are available for quick reference...
December 1, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27898983/molecular-diagnosis-of-inherited-retinal-diseases-in-indigenous-african-populations-by-whole-exome-sequencing
#4
Lisa Roberts, Rinki Ratnapriya, Morné du Plessis, Vijender Chaitankar, Raj S Ramesar, Anand Swaroop
Purpose: A majority of genes associated with inherited retinal diseases (IRDs) have been identified in patients of European origin. Indigenous African populations exhibit rich genomic diversity, and evaluation of reported genetic mutations has yielded low returns so far. Our goal was to perform whole-exome sequencing (WES) to examine variants in known IRD genes in underrepresented African cohorts. Methods: Whole-exome sequencing was performed on 56 samples from 16 families with diverse IRD phenotypes that had remained undiagnosed after screening for known mutations using genotyping-based microarrays (Asper Ophthalmics)...
November 1, 2016: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/27896899/characterization-of-a-novel-form-of-progressive-retinal-atrophy-in-whippet-dogs-a-clinical-electroretinographic-and-breeding-study
#5
André Tavares Somma, Juan Carlos Duque Moreno, Mario Teruo Sato, Blanche Dreher Rodrigues, Marianna Bacellar-Galdino, Laurence Mireille Occelli, Simon Michael Petersen-Jones, Fabiano Montiani-Ferreira
OBJECTIVE: To describe a form of progressive retinal atrophy (PRA) in Whippets including clinical, electroretinographic, optical coherence tomographic changes and pedigree analysis. ANIMALS STUDIED: Client-owned Whippet dogs (n = 51) living in Brazil. PROCEDURES: All animals were submitted for routine ophthalmic screening for presumed inherited ocular disease, which included the following: visual tests, such as obstacle course tests, in scotopic and photopic conditions, cotton ball test, dazzle reflex, ocular fundus evaluation by indirect ophthalmoscopy followed by fundus photography...
November 29, 2016: Veterinary Ophthalmology
https://www.readbyqxmd.com/read/27892788/vitamin-a-deficiency-due-to-bi-allelic-mutation-of-rbp4-there-s-more-to-it-than-meets-the-eye
#6
Kamron N Khan, Keren Carss, F Lucy Raymond, Farrah Islam, Nihr BioResource-Rare Diseases Consortium, Anthony T Moore, Michel Michaelides, Gavin Arno
Vitamin A deficiency is the leading cause of preventable blindness in children worldwide and results in a well-recognized ocular phenotype. Herein we describe a patient presenting to the eye clinic with a retinal dystrophy and ocular colobomata. This combination of clinical signs and consanguineous pedigree structure suggested a genetic basis for the disease, a hypothesis that was tested using whole genome sequencing. Bi-allelic mutations in RBP4 were identified (c.248+1G>A), consistent with a diagnosis of inherited vitamin A deficiency...
November 28, 2016: Ophthalmic Genetics
https://www.readbyqxmd.com/read/27892714/-2r-3s-pinobanksin-3-cinnamate-ameliorates-photoreceptor-degeneration-in-pde6-rd10-mice
#7
Yin Li, Tuo Li, Yi-Qiao Xing, Jia-Zhang Li, Qing-Song Wu
As an inherited disorder caused by initial death of rod photoreceptors, retinitis pigmentosa is currently untreatable and usually leads to partial or complete blindness. (2R, 3S)-pinobanksin-3-cinnamate (PC) is a new flavonone isolated from the seed of Alpinia galanga Willd, and has been reported to exert neuroprotective effects by upregulating endogenous antioxidant enzymes. In this study, the anti-oxidative and neuroprotective activity of PC against photoreceptor apoptosis in rd10 mouse model of retinitis pigmentosa was explored...
November 28, 2016: Cutaneous and Ocular Toxicology
https://www.readbyqxmd.com/read/27879662/retinol-dehydrogenases-regulate-vitamin-a-metabolism-for-visual-function
#8
REVIEW
Bhubanananda Sahu, Akiko Maeda
The visual system produces visual chromophore, 11-cis-retinal from dietary vitamin A, all-trans-retinol making this vitamin essential for retinal health and function. These metabolic events are mediated by a sequential biochemical process called the visual cycle. Retinol dehydrogenases (RDHs) are responsible for two reactions in the visual cycle performed in retinal pigmented epithelial (RPE) cells, photoreceptor cells and Müller cells in the retina. RDHs in the RPE function as 11-cis-RDHs, which oxidize 11-cis-retinol to 11-cis-retinal in vivo...
November 22, 2016: Nutrients
https://www.readbyqxmd.com/read/27875674/gene-therapy-approaches-for-the-treatment-of-retinal-disorders
#9
Lolita Petit, Claudio Punzo
There is an impelling need to develop effective therapeutic strategies for patients with retinal disorders. Gleaning from the large quantity of information gathered over the past two decades on the mechanisms governing degeneration of the retina, it is now possible to devise innovative therapies based on retinal gene transfer. Different gene-based approaches are under active investigation. They include strategies to correct the specific genetic defect in inherited retinal diseases, strategies to delay the onset of blindness independently of the disease-causing mutations, and strategies to reactivate residual cells at late stages of the diseases...
October 2016: Discovery Medicine
https://www.readbyqxmd.com/read/27862925/gene-and-cell-based-therapies-for-inherited-retinal-disorders-an-update
#10
Jesse D Sengillo, Sally Justus, Yi-Ting Tsai, Thiago Cabral, Stephen H Tsang
Retinal degenerations present a unique challenge as disease progression is irreversible and the retina has little regenerative potential. No current treatments for inherited retinal disease have the ability to reverse blindness, and current dietary supplement recommendations only delay disease progression with varied results. However, the retina is anatomically accessible and capable of being monitored at high resolution in vivo. This, in addition to the immune-privileged status of the eye, has put ocular disease at the forefront of advances in gene- and cell-based therapies...
November 8, 2016: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/27862073/n-methyl-n-nitrosourea-induces-retinal-degeneration-in-the-rat-via-the-inhibition-of-nf-%C3%AE%C2%BAb-activation
#11
Yu Xiong, Hong-Pei Ji, Wei-Tao Song, Ye-Wei Yin, Chao-Hua Xia, Bei Xu, Yi Xu, Xiao-Bo Xia
Retinitis pigmentosa (RP) is a group of inherited neurodegenerative diseases characterized by the loss of photoreceptor cells through apoptosis. N-methyl-N-nitrosourea (MNU) is an alkylating toxicant that induces photoreceptor cell death resembling hereditary RP. This study aimed to investigate the role of nuclear factor κB (NF-κB) in MNU-induced photoreceptor degeneration. Adult rats received a single intraperitoneal injection of MNU (60 mg/kg bodyweight). Hematoxylin and eosin staining demonstrated progressive outer nuclear layer (ONL) loss after MNU treatment...
November 13, 2016: Cell Biochemistry and Function
https://www.readbyqxmd.com/read/27860478/-gene-therapy-for-inherited-retinal-and-optic-nerve-disorders-current-knowledge
#12
Ľ Ďuďáková, B Kousal, H Kolářová, L Hlavatá, P Lišková
The aim of this review is to provide a comprehensive summary of current gene therapy clinical trials for monogenic and optic nerve disorders.The number of genes for which gene-based therapies are being developed is growing. At the time of writing this review gene-based clinical trials have been registered for Leber congenital amaurosis 2 (LCA2), retinitis pigmentosa 38, Usher syndrome 1B, Stargardt disease, choroideremia, achromatopsia, Leber hereditary optic neuropathy (LHON) and X-linked retinoschisis. Apart from RPE65 gene therapy for LCA2 and MT-ND4 for LHON which has reached phase III, all other trials are in investigation phase I and II, i...
2016: Ceská a Slovenská Oftalmologie
https://www.readbyqxmd.com/read/27830507/vitamin-a-and-vision
#13
John C Saari
Visual systems detect light by monitoring the effect of photoisomerization of a chromophore on the release of a neurotransmitter from sensory neurons, known as rod and cone photoreceptor cells in vertebrate retina. In all known visual systems, the chromophore is 11-cis-retinal complexed with a protein, called opsin, and photoisomerization produces all-trans-retinal. In mammals, regeneration of 11-cis-retinal following photoisomerization occurs by a thermally driven isomerization reaction. Additional reactions are required during regeneration to protect cells from the toxicity of aldehyde forms of vitamin A that are essential to the visual process...
2016: Sub-cellular Biochemistry
https://www.readbyqxmd.com/read/27821066/a-method-for-isolation-of-cone-photoreceptors-from-adult-zebrafish-retinae
#14
Antonino Glaviano, Andrew J Smith, Alfonso Blanco, Sarah McLoughlin, Maria L Cederlund, Theresa Heffernan, Beata Sapetto-Rebow, Yolanda Alvarez, Jun Yin, Breandán N Kennedy
BACKGROUND: Cone photoreceptors are specialised sensory retinal neurons responsible for photopic vision, colour perception and visual acuity. Retinal degenerative diseases are a heterogeneous group of eye diseases in which the most severe vision loss typically arises from cone photoreceptor dysfunction or degeneration. Establishing a method to purify cone photoreceptors from retinal tissue can accelerate the identification of key molecular determinants that underlie cone photoreceptor development, survival and function...
November 7, 2016: BMC Neuroscience
https://www.readbyqxmd.com/read/27806333/novel-mutations-in-crb1-gene-identified-in-a-chinese-pedigree-with-retinitis-pigmentosa-by-targeted-capture-and-next-generation-sequencing
#15
Lan Lu, Xizhen Wang, David Lo, Jingning Weng, Xiaohong Liu, Juhua Yang, Fen He, Yun Wang, Xuyang Liu
PURPOSE: To detect the disease-causing gene in a Chinese pedigree with autosomal-recessive retinitis pigmentosa (ARRP). METHODS: All subjects in this family underwent a complete ophthalmic examination. Targeted-capture next generation sequencing (NGS) was performed on the proband to detect variants. All variants were verified in the remaining family members by PCR amplification and Sanger sequencing. RESULTS: All the affected subjects in this pedigree were diagnosed with retinitis pigmentosa (RP)...
October 28, 2016: Oncotarget
https://www.readbyqxmd.com/read/27793968/ciliopathies
#16
Daniela A Braun, Friedhelm Hildebrandt
Nephronophthisis-related ciliopathies (NPHP-RC) are a group of inherited diseases that affect genes encoding proteins that localize to primary cilia or centrosomes. With few exceptions, ciliopathies are inherited in an autosomal recessive manner, and affected individuals manifest early during childhood or adolescence. NPHP-RC are genetically very heterogeneous, and, currently, mutations in more than 90 genes have been described as single-gene causes. The phenotypes of NPHP-RC are very diverse, and include cystic-fibrotic kidney disease, brain developmental defects, retinal degeneration, skeletal deformities, facial dimorphism, and, in some cases, laterality defects, and congenital heart disease...
October 28, 2016: Cold Spring Harbor Perspectives in Biology
https://www.readbyqxmd.com/read/27785575/diagnosis-of-joubert-syndrome-via-ultrasonography
#17
Baris Buke, Emre Canverenler, Göksun İpek, Semiha Canverenler, Hatice Akkaya
Joubert syndrome (JS) and related disorders (JSRD) are a group of multiple congenital anomaly syndromes in which the diagnostic hallmark is the molar tooth sign (MTS), a complex midbrain malformation visible on brain imaging. Detection of the MTS should be followed by a diagnostic protocol to assess multi-organ involvement. The incidence of JSRD ranges between 1/80,000 and 1/100,000 live births, although these values may represent an underestimate. The neurological components of JSRD include hypotonia, ataxia, intellectual disability, abnormal eye movements, and neonatal breathing problems...
October 26, 2016: Journal of Medical Ultrasonics
https://www.readbyqxmd.com/read/27785399/von-hippel-lindau-disease-the-clinical-manifestations-and-genetic-analysis-results-of-two-cases-from-a-single-family
#18
S Kinyas, S A Ozal, H Guclu, V Gurlu, H Esgin, H Gurkan
von Hippel-Lindau (VHL) disease is an autosomal dominant inherited multi systemic cancer syndrome that is classically associated with neoplasms in multiple organs, and caused by mutations in the VHL gene on chromosome 3p25-p26. Retinal hemangioblastoma (RH) is the most frequent and the earliest clinical sign of the disease, which is seen in 40.0-60.0% of patients. In recent years, studies of patients with VHL tried to put forward the relationship between genotype and phenotype. In this study, two VHL cases in the same family with clinical findings and genetic analysis results are presented...
December 1, 2015: Balkan Journal of Medical Genetics: BJMG
https://www.readbyqxmd.com/read/27773545/cadasil-mimicking-multiple-sclerosis-the-importance-of-clinical-and-mri-red-flags
#19
Stuti Joshi, Wayne Yau, Allan Kermode
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited small vessel disease, manifesting as recurrent ischaemic events, migraine with aura, behavioural disturbance and cognitive decline. We report two patients with CADASIL masquerading as multiple sclerosis (MS). A 23year old female presented with a visual scotoma and was discovered to have a corresponding retinal cotton wool spot. MRI brain revealed diffuse T2 hyperintensities suggestive of demyelination...
October 20, 2016: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/27764769/establishing-the-involvement-of-the-novel-gene-agbl5-in-retinitis-pigmentosa-by-whole-genome-sequencing
#20
Kari Branham, Hiroko Matsui, Pooja Biswas, Aditya A Guru, Michael Hicks, John J Suk, He Li, David Jakubosky, Tao Long, Amalio Telenti, Naoki Nariai, John R Heckenlively, Kelly A Frazer, Paul A Sieving, Radha Ayyagari
While more than 250 genes are known to cause inherited retinal degenerations (IRD), nearly 40-50% of families have the genetic basis for their disease unknown. In this study we sought to identify the underlying cause of inherited retinal degeneration (IRD) in a family by whole genome sequence (WGS) analysis. Clinical characterization including standard ophthalmic examination, fundus photography, visual field testing, electroretinography, and review of medical and family history was performed. WGS was performed on affected and unaffected family members using Illumina HiSeq X10...
October 7, 2016: Physiological Genomics
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