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https://www.readbyqxmd.com/read/28525563/omics-biomarkers-in-ophthalmology
#1
Susette Lauwen, Eiko K de Jong, Dirk J Lefeber, Anneke I den Hollander
"Omics" refers to high-throughput analyses of genes, proteins, or metabolites in a biological system, and is increasingly used for ophthalmic research. These system-based approaches can unravel disease-related processes and are valuable for biomarker discovery. Furthermore, potential therapeutic targets can be identified based on omics results, and targeted follow-up experiments can be designed to gain molecular understanding of the disease and to test new therapies. Here, we review the application of omics techniques in eye diseases, focusing on age-related macular degeneration (AMD), diabetic retinopathy (DR), retinal detachment (RD), myopia, glaucoma, Fuchs' corneal dystrophy (FCD), cataract, keratoconus, and dry eyes...
May 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28510482/rod-outer-segment-development-influences-aav-mediated-photoreceptor-transduction-after-subretinal-injection
#2
Lolita Petit, Shan Ma, Shun-Yun Cheng, Guangping Gao, Claudio Punzo
Vectors based on the adeno-associated virus (AAV) are currently the preferred tools for delivering genes to photoreceptors (PR) in small and large animals. AAVs have been applied successfully in various models of PR dystrophies. However, unknown barriers still limit AAV's efficient application in several forms of severe PR degenerations, due to insufficient transgene expression and/or treated cells at the time of injection. Optimizations of PR gene therapy strategies will likely benefit from the identification of the cellular factors that influence PR transduction...
May 16, 2017: Human Gene Therapy
https://www.readbyqxmd.com/read/28504201/cilia-the-sensory-antennae-in-the-eye
#3
REVIEW
Helen May-Simera, Kerstin Nagel-Wolfrum, Uwe Wolfrum
Cilia are hair-like projections found on almost all cells in the human body. Originally believed to function merely in motility, the function of solitary non-motile (primary) cilia was long overlooked. Recent research has demonstrated that primary cilia function as signalling hubs that sense environmental cues and are pivotal for organ development and function, tissue hoemoestasis, and maintenance of human health. Cilia share a common anatomy and their diverse functional features are achieved by evolutionarily conserved functional modules, organized into sub-compartments...
May 11, 2017: Progress in Retinal and Eye Research
https://www.readbyqxmd.com/read/28495838/usher-syndrome-type-1-associated-cadherins-shape-the-photoreceptor-outer-segment
#4
Cataldo Schietroma, Karine Parain, Amrit Estivalet, Asadollah Aghaie, Jacques Boutet de Monvel, Serge Picaud, José-Alain Sahel, Muriel Perron, Aziz El-Amraoui, Christine Petit
Usher syndrome type 1 (USH1) causes combined hearing and sight defects, but how mutations in USH1 genes lead to retinal dystrophy in patients remains elusive. The USH1 protein complex is associated with calyceal processes, which are microvilli of unknown function surrounding the base of the photoreceptor outer segment. We show that in Xenopus tropicalis, these processes are connected to the outer-segment membrane by links composed of protocadherin-15 (USH1F protein). Protocadherin-15 deficiency, obtained by a knockdown approach, leads to impaired photoreceptor function and abnormally shaped photoreceptor outer segments...
May 11, 2017: Journal of Cell Biology
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
#5
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/28475715/reep6-deficiency-leads-to-retinal-degeneration-through-disruption-of-er-homeostasis-and-protein-trafficking
#6
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/28473427/erg-and-oct-findings-of-a-patient-with-a-clinical-diagnosis-of-occult-macular-dystrophy-in-a-patient-of-ashkenazi-jewish-descent-associated-with-a-novel-mutation-in-the-gene-encoding-rp1l1
#7
Norman Saffra, Carly Jane Seidman, Aleksandr Rakhamimov, Stephen H Tsang
A 57-year-old man with a past medical history of diabetes presented for consultation with a several year history of slowly progressive vision loss in both eyes, which continued to deteriorate over 7 years of follow-up. Multimodal imaging was performed and was significant for the following: on spectral domain optical coherence tomography, a gap lesion was present in the ellipsoid layer, beneath the umbo, as well as subtle macular changes on auto fluorescence imaging. Multifocal electroretinography was performed and was abnormal, and a clinical diagnosis of occult macular dystrophy was made...
May 4, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28471455/corrigendum-identifying-mutations-in-tunisian-families-with-retinal-dystrophy
#8
Imen Habibi, Ahmed Chebil, Yosra Falfoul, Nathalie Allaman-Pillet, Fedra Kort, Daniel F Schorderet, Leila El Matri
No abstract text is available yet for this article.
May 4, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28471114/phenotype-genotype-correlation-with-sanger-sequencing-identified-retinol-dehydrogenase-12-rdh12-compound-heterozygous-variants-in-a-chinese-family-with-leber-congenital-amaurosis
#9
Yun Li, Qing Pan, Yang-Shun Gu
BACKGROUND: Leber congenital amaurosis (LCA) is a group of clinically and genetically heterogeneous retinal dystrophy. To date, 22 genes are known to be responsible for LCA, and some specific phenotypic features could provide significant prognostic information for a potential genetic etiology. This study is to identify gene variants responsible for LCA in a Chinese family using direct Sanger sequencing, with the help of phenotype-genotype correlations. METHODS: A Chinese family with six members including two individuals affected with LCA was studied...
May 2017: Journal of Zhejiang University. Science. B
https://www.readbyqxmd.com/read/28469144/a-deep-intronic-clrn1-ush3a-founder-mutation-generates-an-aberrant-exon-and-underlies-severe-usher-syndrome-on-the-arabian-peninsula
#10
Arif O Khan, Elvir Becirovic, Christian Betz, Christine Neuhaus, Janine Altmüller, Lisa Maria Riedmayr, Susanne Motameny, Gudrun Nürnberg, Peter Nürnberg, Hanno J Bolz
Deafblindness is mostly due to Usher syndrome caused by recessive mutations in the known genes. Mutation-negative patients therefore either have distinct diseases, mutations in yet unknown Usher genes or in extra-exonic parts of the known genes - to date a largely unexplored possibility. In a consanguineous Saudi family segregating Usher syndrome type 1 (USH1), NGS of genes for Usher syndrome, deafness and retinal dystrophy and subsequent whole-exome sequencing each failed to identify a mutation. Genome-wide linkage analysis revealed two small candidate regions on chromosome 3, one containing the USH3A gene CLRN1, which has never been associated with Usher syndrome in Saudi Arabia...
May 3, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28465303/epidemiology-of-blindness-in-children
#11
REVIEW
Ameenat Lola Solebo, Lucinda Teoh, Jugnoo Rahi
An estimated 14 million of the world's children are blind. A blind child is more likely to live in socioeconomic deprivation, to be more frequently hospitalised during childhood and to die in childhood than a child not living with blindness. This update of a previous review on childhood visual impairment focuses on emerging therapies for children with severe visual disability (severe visual impairment and blindness or SVI/BL).For children in higher income countries, cerebral visual impairment and optic nerve anomalies remain the most common causes of SVI/BL, while retinopathy of prematurity (ROP) and cataract are now the most common avoidable causes...
May 2, 2017: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/28462455/a-novel-mertk-mutation-causing-retinitis-pigmentosa
#12
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/28460050/ift81-as-a-candidate-gene-for-nonsyndromic-retinal-degeneration
#13
Rachayata Dharmat, Wei Liu, Zhongqi Ge, Zixi Sun, Lizhu Yang, Yumei Li, Keqing Wang, Kandace Thomas, Ruifang Sui, Rui Chen
Purpose: IFT81, a core component of the IFT-B complex, involved in the bidirectional transport of ciliary proteins, has been recently implicated in syndromic ciliopathies. However, none of the IFT-B core complex proteins have been associated with nonsyndromic retinal dystrophies. Given the importance of ciliary transport in photoreceptor function and structural maintenance, we sought to investigate the impact of IFT (intraflagellar transport) mutations in nonsyndromic retinopathies. Methods: Whole exome sequencing was performed on 50 cone-rod dystrophy (CRD) patients that were previously screened for mutations in known retinal disease genes...
May 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28456785/targeted-next-generation-sequencing-identified-novel-mutations-in-rpgrip1-associated-with-both-retinitis-pigmentosa-and-leber-s-congenital-amaurosis-in-unrelated-chinese-patients
#14
Hui Huang, Ying Wang, Huishuang Chen, Yanhua Chen, Jing Wu, Pei-Wen Chiang, Ning Fan, Yan Su, Jianlian Deng, Dongna Chen, Yang Li, Xinxin Zhang, Mengxin Zhang, Shengran Liang, Santasree Banerjee, Ming Qi, Xuyang Liu
As the most common inherited retinal degenerations, retinitis pigmentosa (RP) is clinically and genetically heterogeneous. Some of the RP genes are also associated with other retinal diseases, such as LCA (Leber's congenital amaurosis) and CORD (cone-rod dystrophy). Here, in our molecular diagnosis of 99 Chinese RP patients using targeted gene capture sequencing, three probands were found to carry mutations of RPGRIP1, which was known to be associated with pathogenesis of LCA and CORD. By further clinical analysis, two probands were confirmed to be RP patients and one was confirmed to be LCA patient...
April 12, 2017: Oncotarget
https://www.readbyqxmd.com/read/28456420/the-evolution-of-outer-retinal-tubulation-a-neurodegeneration-and-gliosis-prominent-in-macular-diseases
#15
Rosa Dolz-Marco, Katie M Litts, Anna C S Tan, K Bailey Freund, Christine A Curcio
PURPOSE: To document outer retinal tubulation (ORT) formation in advanced retinal disorders. DESIGN: Retrospective, observational study. PARTICIPANTS: Consecutive cases with retinal diseases showing outer retinal disruption and atrophy of the retinal pigment epithelium (RPE) associated with ORT on spectral-domain (SD) optical coherence tomography (OCT) at the final available visit. METHODS: Cross-sectional SD OCT scans showing ORT at the last available visit were compared with eye-tracked baseline scans...
April 26, 2017: Ophthalmology
https://www.readbyqxmd.com/read/28453600/whole-exome-sequencing-in-eight-thai-patients-with-leber-congenital-amaurosis-reveals-mutations-in-the-ctnna1-and-cyp4v2-genes
#16
Worapoj Jinda, Todd D Taylor, Yutaka Suzuki, Wanna Thongnoppakhun, Chanin Limwongse, Patcharee Lertrit, Adisak Trinavarat, La-Ongsri Atchaneeyasakul
Purpose: Our goal was to describe the clinical and molecular genetic findings in Thai patients with Leber congenital amaurosis (LCA). Methods: Whole exome sequencing (WES) was performed in eight unrelated patients. All genes responsible for inherited retinal diseases (IRDs) based on RetNet were selected for analysis. Potentially causative variants were filtered through a bioinformatics pipeline and validated using Sanger sequencing. Segregation analysis of the causative genes was performed in family members when available...
April 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28451987/erg-and-other-discriminators-between-advanced-hydroxychloroquine-retinopathy-and-retinitis-pigmentosa
#17
Archana A Nair, Michael F Marmor
PURPOSE: To study whether the ERG and other clinical findings help to distinguish between advanced hydroxychloroquine (HCQ) retinopathy and pericentral or diffuse retinitis pigmentosa (RP) with similar fundus appearance. METHODS: We conducted a retrospective analysis of patients with advanced HCQ retinopathy (n = 11), pericentral RP (n = 8) and diffuse RP (n = 8). Pericentral RP was defined as having limited fundus damage and relatively normal flicker ERG time-to-peak...
April 27, 2017: Documenta Ophthalmologica. Advances in Ophthalmology
https://www.readbyqxmd.com/read/28449103/novel-degenerative-and-developmental-defects-in-a-zebrafish-model-of-mucolipidosis-type-iv
#18
Huiqing Li, Wuhong Pei, Sivia Vergarajauregui, Patricia M Zerfas, Nina Raben, Shawn M Burgess, Rosa Puertollano
Mucolipidosis type IV (MLIV) is a lysosomal storage disease characterized by neurologic and ophthalmologic abnormalities. There is currently no effective treatment. MLIV is caused by mutations in MCOLN1, a lysosomal cation channel from the transient receptor potential (TRP) family. In this study we used genome editing to knockout the two mcoln1 genes present in Dario rerio (zebrafish). Our model successfully reproduced the retinal and neuromuscular defects observed in MLIV patients, indicating that this model is suitable for studying the disease pathogenesis...
April 25, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28446513/frequent-hypomorphic-alleles-account-for-a-significant-fraction-of-abca4-disease-and-distinguish-it-from-age-related-macular-degeneration
#19
Jana Zernant, Winston Lee, Frederick T Collison, Gerald A Fishman, Yuri V Sergeev, Kaspar Schuerch, Janet R Sparrow, Stephen H Tsang, Rando Allikmets
BACKGROUND: Variation in the ABCA4 gene is causal for, or associated with, a wide range of phenotypes from early onset Mendelian retinal dystrophies to late-onset complex disorders such as age-related macular degeneration (AMD). Despite substantial progress in determining the causal genetic variation, even complete sequencing of the entire open reading frame and splice sites of ABCA4 identifies biallelic mutations in only 60%-70% of cases; 20%-25% remain with one mutation and no mutations are found in 10%-15% of cases with clinically confirmed ABCA4 disease...
April 26, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28442884/cone-dystrophy-or-macular-dystrophy-associated-with-novel-autosomal-dominant-guca1a-mutations
#20
Gaël Manes, Sonia Mamouni, Emilie Hérald, Anne-Claire Richard, Audrey Sénéchal, Karim Aouad, Béatrice Bocquet, Isabelle Meunier, Christian P Hamel
PURPOSE: Sixteen different mutations in the guanylate cyclase activator 1A gene (GUCA1A), have been previously identified to cause autosomal dominant cone dystrophy (adCOD), cone-rod dystrophy (adCORD), macular dystrophy (adMD), and in an isolated patient, retinitis pigmentosa (RP). The purpose of this study is to report on two novel mutations and the patients' clinical features. METHODS: Clinical investigations included visual acuity and visual field testing, fundus examination, high-resolution spectral-domain optical coherence tomography (OCT), fundus autofluorescence imaging, and full-field and multifocal electroretinogram (ERG) recordings...
2017: Molecular Vision
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