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Inherited retinal diseases

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https://www.readbyqxmd.com/read/28749477/mapping-the-genomic-landscape-of-inherited-retinal-disease-genes-prioritizes-genes-prone-to-coding-and-noncoding-copy-number-variations
#1
Kristof Van Schil, Sarah Naessens, Stijn Van de Sompele, Marjolein Carron, Alexander Aslanidis, Caroline Van Cauwenbergh, Anja Kathrin Mayer, Mattias Van Heetvelde, Miriam Bauwens, Hannah Verdin, Frauke Coppieters, Michael E Greenberg, Marty G Yang, Marcus Karlstetter, Thomas Langmann, Katleen De Preter, Susanne Kohl, Timothy J Cherry, Bart P Leroy, Elfride De Baere
PurposePart of the hidden genetic variation in heterogeneous genetic conditions such as inherited retinal diseases (IRDs) can be explained by copy-number variations (CNVs). Here, we explored the genomic landscape of IRD genes listed in RetNet to identify and prioritize those genes susceptible to CNV formation.MethodsRetNet genes underwent an assessment of genomic features and of CNV occurrence in the Database of Genomic Variants and literature. CNVs identified in an IRD cohort were characterized using targeted locus amplification (TLA) on extracted genomic DNA...
July 27, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28746191/whole-exome-sequencing-unveils-a-frameshift-mutation-in-cngb3-for-cone-dystrophy-a-case-report-of-an-indian-family
#2
Shashank Gupta, Amit Chaurasia, Ekta Pathak, Rajeev Mishra, Vidya Nair Chaudhry, Prashaant Chaudhry, Ashim Mukherjee, Mousumi Mutsuddi
RATIONALE: Genetic elucidation of cone-dominated retinal dystrophies in Indian subcontinent is much needed to identify and catalog underlying genetic defects. In this context, the present study recruited a consanguineous Indian family affected with autosomal recessive cone dystrophy (CD). Considering the huge genetic heterogeneity and recessive inheritance of the disease, we chose to dissect out causal variant in this family by whole exome sequencing (WES). PATIENT CONCERNS: In the recruited family, three of the six siblings had complaints of poor visual acuity, photophobia, and disturbed colour vision since early childhood...
July 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28724397/partial-uniparental-isodisomy-of-chromosome-16-unmasks-a-deleterious-biallelic-mutation-in-ift140-that-causes-mainzer-saldino-syndrome
#3
Benjamin M Helm, Jason R Willer, Azita Sadeghpour, Christelle Golzio, Eric Crouch, Samantha Schrier Vergano, Nicholas Katsanis, Erica E Davis
BACKGROUND: The ciliopathies represent an umbrella group of >50 clinical entities that share both clinical features and molecular etiology underscored by structural and functional defects of the primary cilium. Despite the advances in gene discovery, this group of entities continues to pose a diagnostic challenge, in part due to significant genetic and phenotypic heterogeneity and variability. We consulted a pediatric case from asymptomatic, non-consanguineous parents who presented as a suspected ciliopathy due to a constellation of retinal, renal, and skeletal findings...
July 19, 2017: Human Genomics
https://www.readbyqxmd.com/read/28721681/genetic-characterization-and-disease-mechanism-of-retinitis-pigmentosa-current-scenario
#4
REVIEW
Muhammad Umar Ali, Muhammad Saif Ur Rahman, Jiang Cao, Ping Xi Yuan
Retinitis pigmentosa is a group of genetically transmitted disorders affecting 1 in 3000-8000 individual people worldwide ultimately affecting the quality of life. Retinitis pigmentosa is characterized as a heterogeneous genetic disorder which leads by progressive devolution of the retina leading to a progressive visual loss. It can occur in syndromic (with Usher syndrome and Bardet-Biedl syndrome) as well as non-syndromic nature. The mode of inheritance can be X-linked, autosomal dominant or autosomal recessive manner...
August 2017: 3 Biotech
https://www.readbyqxmd.com/read/28717659/identification-and-characterization-of-variants-and-a-novel-4%C3%A2-bp-deletion-in-the-regulatory-region-of-six6-a-risk-factor-for-primary-open-angle-glaucoma
#5
Mohd Hussain Shah, Noemi Tabanera, Subbaiah Ramasamy Krishnadas, Manju R Pillai, Paola Bovolenta, Periasamy Sundaresan
BACKGROUND: Primary open-angle glaucoma (POAG) is a complex disease of multigenic inheritance and the most common subtype of glaucoma. SIX6 encodes a transcription factor involved in retina, optic nerve, and pituitary development. Previous studies showed a genetic association between the SIX6 locus and POAG, identifying risk alleles. Whether these alleles are present also in the south Indian population is unclear. METHODS: To address this question, the SIX6 gene and an already characterized and highly conserved SIX6 enhancer (Ch14:60974427-60974430) were sequenced in two south Indian cohorts, respectively, composed of 65/65 and 200/200 POAG cases/age-matched controls...
July 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28714225/leveraging-splice-affecting-variant-predictors-and-a-minigene-validation-system-to-identify-mendelian-disease-causing-variants-amongst-exon-captured-variants-of-uncertain-significance
#6
Zachry T Soens, Justin Branch, Shijing Wu, Zhisheng Yuan, Yumei Li, Hui Li, Keqing Wang, Mingchu Xu, Lavan Rajan, Fabiana L Motta, Renata T Simões, Irma Lopez-Solache, Radwan Ajlan, David G Birch, Peiquan Zhao, Fernanda B Porto, Juliana Sallum, Robert K Koenekoop, Ruifang Sui, Rui Chen
The genetic heterogeneity of Mendelian disorders results in a significant proportion of patients that are unable to be assigned a confident molecular diagnosis after conventional exon sequencing and variant interpretation. Here we evaluated how many patients with an inherited retinal disease (IRD) have variants of uncertain significance (VUS's) that are disrupting splicing in a known IRD gene by means other than affecting the canonical dinucleotide splice site. Three in silico splice-affecting variant predictors were leveraged to annotate and prioritize variants for splicing functional validation...
July 17, 2017: Human Mutation
https://www.readbyqxmd.com/read/28704127/retinal-mirnas-variations-in-a-large-cohort-of-inherited-retinal-disease
#7
Xiu-Feng Huang, Zhi-Qin Huang, Xiao-Long Fang, Zhen-Ji Chen, Wan Cheng, Zi-Bing Jin
BACKGROUND: Although great efforts have been paid on identification of genetic predisposition in the inherited retinal disease (IRD), genetic causes of a large proportion of patients remain a mystery. This dilemma makes us attempt to speculate that genetic components other than coding genes might be an additional pool predisposing IRD. In this study, we aim to perform a mutational screening in a large cohort of IRD patients with a particular focus on retina-specific or abundant microRNAs (miRs)...
July 13, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28702674/report-from-the-nei-fda-endpoints-workshop-on-age-related-macular-degeneration-and-inherited-retinal-diseases
#8
Karl Csaky, Frederick Ferris, Emily Y Chew, Prashant Nair, Janet K Cheetham, Jacque L Duncan
No abstract text is available yet for this article.
July 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28698241/longitudinal-characterisation-of-function-and-structure-of-bietti-crystalline-dystrophy-report-on-a-novel-homozygous-mutation-in-cyp4v2
#9
Catherine M Lockhart, Travis B Smith, Paul Yang, Malini Naidu, Allan E Rettie, Abhinav Nath, Richard Weleber, Edward J Kelly
BACKGROUND: Bietti crystalline dystrophy (BCD) is a rare inherited disorder characterised by fine crystalline deposits in the corneal limbus and retinal posterior pole. In 2004, mutations in the CYP4V2 gene were identified as the cause of BCD. Here, we describe the report of a homozygous point mutation in a patient with BCD and provide detailed characterisation of functional and structural changes over 20 years. METHODS: At regular intervals, the patient underwent repeat ophthalmic evaluations...
July 11, 2017: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/28695744/genome-editing-the-breakthrough-technology-for-inherited-retinal-disease
#10
Andrew J Smith, Stephen P Carter, Breandán N Kennedy
Genetic alterations resulting in a dysfunctional retinal pigment epithelium and/or degenerating photoreceptors cause impaired vision. These juxtaposed cells in the retina of the posterior eye are crucial for the visual cycle or phototransduction. Deficits in these biochemical processes perturb neural processing of images capturing the external environment. Notably, there is a distinct lack of clinically approved pharmacological, cell- or gene-based therapies for inherited retinal disease. Gene editing technologies are rapidly advancing as a realistic therapeutic option...
July 11, 2017: Expert Opinion on Biological Therapy
https://www.readbyqxmd.com/read/28689169/leber-congenital-amaurosis-early-onset-severe-retinal-dystrophy-clinical-features-molecular-genetics-and-therapeutic-interventions
#11
REVIEW
Neruban Kumaran, Anthony T Moore, Richard G Weleber, Michel Michaelides
Leber congenital amaurosis (LCA) and early-onset severe retinal dystrophy (EOSRD) are both genetically and phenotypically heterogeneous, and characterised clinically by severe congenital/early infancy visual loss, nystagmus, amaurotic pupils and markedly reduced/absent full-field electroretinograms. The vast genetic heterogeneity of inherited retinal disease has been established over the last 10 - 20 years, with disease-causing variants identified in 25 genes to date associated with LCA/EOSRD, accounting for 70-80% of cases, with thereby more genes yet to be identified...
July 8, 2017: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/28658601/early-arterial-calcification-does-not-correlate-with-bone-loss-in-pseudoxanthoma-elasticum
#12
Ludovic Martin, Emmanuel Hoppé, Gilles Kauffenstein, Loukman Omarjee, Nastassia Navasiolava, Samir Henni, Serge Willoteaux, Georges Leftheriotis
BACKGROUND AND AIMS: Pseudoxanthoma elasticum (PXE; OMIM 264800, prevalence 1/25,000 to 1/50,000) is an autosomal recessive multisystem disease due to deficiency in ABCC6, an ATP-binding cassette, sub-family C transporter. The PXE phenotype is mainly characterized by progressive ectopic calcification of connective tissues (namely skin, retinal Bruch's membrane and peripheral arteries) but the impact of PXE on bone structure is currently unknown. The present study sought to investigate bone mineralization and its potential link with vascular calcification in a large cohort of PXE patients with inherited mutations of the ABCC6 gene...
June 27, 2017: Bone
https://www.readbyqxmd.com/read/28652416/mitochondrial-membrane-dynamics-and-inherited-optic-neuropathies
#13
REVIEW
Eleni Bagli, Anastasia K Zikou, Niki Agnantis, Georgios Kitsos
Inherited optic neuropathies are a genetically diverse group of disorders mainly characterized by visual loss and optic atrophy. Since the first recognition of Leber's hereditary optic neuropathy, several genetic defects altering primary mitochondrial respiration have been proposed to contribute to the development of syndromic and non-syndromic optic neuropathies. Moreover, the genomics and imaging revolution in the past decade has increased diagnostic efficiency and accuracy, allowing recognition of a link between mitochondrial dynamics machinery and a broad range of inherited neurodegenerative diseases involving the optic nerve...
July 2017: In Vivo
https://www.readbyqxmd.com/read/28619647/using-crispr-cas9-to-generate-gene-corrected-autologous-ipscs-for-the-treatment-of-inherited-retinal-degeneration
#14
Erin R Burnight, Manav Gupta, Luke A Wiley, Kristin R Anfinson, Audrey Tran, Robinson Triboulet, Jeremy M Hoffmann, Darcey L Klaahsen, Jeaneen L Andorf, Chunhua Jiao, Elliott H Sohn, Malavika K Adur, Jason W Ross, Robert F Mullins, George Q Daley, Thorsten M Schlaeger, Edwin M Stone, Budd A Tucker
Patient-derived induced pluripotent stem cells (iPSCs) hold great promise for autologous cell replacement. However, for many inherited diseases, treatment will likely require genetic repair pre-transplantation. Genome editing technologies are useful for this application. The purpose of this study was to develop CRISPR-Cas9-mediated genome editing strategies to target and correct the three most common types of disease-causing variants in patient-derived iPSCs: (1) exonic, (2) deep intronic, and (3) dominant gain of function...
June 12, 2017: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/28601586/evaluating-structural-progression-of-retinitis-pigmentosa-after-cataract-surgery
#15
Joaquin O De Rojas, Kaspar Schuerch, Priya M Mathews, Thiago Cabral, Albert Hazan, Janet Sparrow, Stephen H Tsang, Leejee H Suh
PURPOSE: To determine whether cataract surgery accelerates disease progression in retinitis pigmentosa (RP). DESIGN: Retrospective cohort study. METHODS: Seventy eyes of 40 patients with RP were categorized as having had phacoemulsification with intraocular lens implantation vs no cataract surgery at a single tertiary-level institution. Spectral-domain optical coherence tomography (SDOCT) was used to measure the ellipsoid zone (EZ) width, which has been demonstrated to be a reliable marker of RP severity, at baseline and throughout follow-up (median 768 days)...
June 8, 2017: American Journal of Ophthalmology
https://www.readbyqxmd.com/read/28599337/-pediatric-retinal-detachment
#16
Petra Meier
The number of retinal detachments in children is rarely compared to the number of retinal detachments in adults; only 3 - 7% occur in children. The main predisposing factors are trauma, myopia, hereditary vitreoretinopathies, retinopathy of prematurity, malformations and Coats' disease. The most frequent paediatric retinal detachments are trauma-associated and vitreoretinopathies are the most common cause of inherited retinal detachment. Disease-specific surgical treatments are discussed. Episcleral buckling surgery should be the preferred method in any case of clear lens, especially for treatment of oradialysis and well-defined localization of peripherally retinal tears...
June 9, 2017: Klinische Monatsblätter Für Augenheilkunde
https://www.readbyqxmd.com/read/28596937/harnessing-the-potential-of-human-pluripotent-stem-cells-and-gene-editing-for-the-treatment-of-retinal-degeneration
#17
REVIEW
Patrick Ovando-Roche, Anastasios Georgiadis, Alexander J Smith, Rachael A Pearson, Robin R Ali
PURPOSE OF REVIEW: A major cause of visual disorders is dysfunction and/or loss of the light-sensitive cells of the retina, the photoreceptors. To develop better treatments for patients, we need to understand how inherited retinal disease mutations result in the dysfunction of photoreceptors. New advances in the field of stem cell and gene editing research offer novel ways to model retinal dystrophies in vitro and present opportunities to translate basic biological insights into therapies...
2017: Current Stem Cell Reports
https://www.readbyqxmd.com/read/28596720/aav-mediated-gene-supplementation-therapy-in-achromatopsia-type-2-preclinical-data-on-therapeutic-time-window-and-long-term-effects
#18
Regine Mühlfriedel, Naoyuki Tanimoto, Christian Schön, Vithiyanjali Sothilingam, Marina Garcia Garrido, Susanne C Beck, Gesine Huber, Martin Biel, Mathias W Seeliger, Stylianos Michalakis
Achromatopsia type 2 (ACHM2) is a severe, inherited eye disease caused by mutations in the CNGA3 gene encoding the α subunit of the cone photoreceptor cyclic nucleotide-gated (CNG) channel. Patients suffer from strongly impaired daylight vision, photophobia, nystagmus, and lack of color discrimination. We have previously shown in the Cnga3 knockout (KO) mouse model of ACHM2 that gene supplementation therapy is effective in rescuing cone function and morphology and delaying cone degeneration. In our preclinical approach, we use recombinant adeno-associated virus (AAV) vector-mediated gene transfer to express the murine Cnga3 gene under control of the mouse blue opsin promoter...
2017: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/28586915/specific-alleles-of-cln7-mfsd8-a-protein-that-localizes-to-photoreceptor-synaptic-terminals-cause-a-spectrum-of-nonsyndromic-retinal-dystrophy
#19
MULTICENTER STUDY
Kamron N Khan, Mohammed E El-Asrag, Cristy A Ku, Graham E Holder, Martin McKibbin, Gavin Arno, James A Poulter, Keren Carss, Tejaswi Bommireddy, Saghar Bagheri, Benjamin Bakall, Hendrik P Scholl, F Lucy Raymond, Carmel Toomes, Chris F Inglehearn, Mark E Pennesi, Anthony T Moore, Michel Michaelides, Andrew R Webster, Manir Ali
Purpose: Recessive mutations in CLN7/MFSD8 usually cause variant late-infantile onset neuronal ceroid lipofuscinosis (vLINCL), a poorly understood neurodegenerative condition, though mutations may also cause nonsyndromic maculopathy. A series of 12 patients with nonsyndromic retinopathy due to novel CLN7/MFSD8 mutation combinations were investigated in this study. Methods: Affected patients and their family members were recruited in ophthalmic clinics at each center where they were examined by retinal imaging and detailed electrophysiology...
June 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28574807/genetic-studies-in-a-patient-with-x-linked-retinoschisis-coexisting-with-developmental-delay-and-sensorineural-hearing-loss
#20
Dhandayuthapani Sudha, Irene Rosita Pia Patric, Aparna Ganapathy, Smitha Agarwal, Shuba Krishna, Srividya Neriyanuri, Sarangapani Sripriya, Parveen Sen, Subbulakshmi Chidambaram, Jayamuruga Pandian Arunachalam
BACKGROUND: In this study, we present a juvenile retinoschisis patient with developmental delay, sensorineural hearing loss, and reduced axial tone. X-linked juvenile retinoschisis (XLRS) is a retinal dystrophy, most often not associated with systemic anomalies and also not showing any locus heterogeneity. Therefore it was of interest to understand the genetic basis of the condition in this patient. MATERIALS AND METHODS: RS1 gene screening for XLRS was performed by Sanger sequencing...
May 2017: Ophthalmic Genetics
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