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Gene therapy cone rod dystrophie

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https://www.readbyqxmd.com/read/28510482/rod-outer-segment-development-influences-aav-mediated-photoreceptor-transduction-after-subretinal-injection
#1
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/28341475/genotypic-and-phenotypic-characteristics-of-crb1-associated-retinal-dystrophies-a-long-term-follow-up-study
#2
Mays Talib, Mary J van Schooneveld, Maria M van Genderen, Jan Wijnholds, Ralph J Florijn, Jacoline B Ten Brink, Nicoline E Schalij-Delfos, Gislin Dagnelie, Frans P M Cremers, Ron Wolterbeek, Marta Fiocco, Alberta A Thiadens, Carel B Hoyng, Caroline C Klaver, Arthur A Bergen, Camiel J F Boon
PURPOSE: To describe the phenotype, long-term clinical course, clinical variability, and genotype of patients with CRB1-associated retinal dystrophies. DESIGN: Retrospective cohort study. PARTICIPANTS: Fifty-five patients with CRB1-associated retinal dystrophies from 16 families. METHODS: A medical record review of 55 patients for age at onset, medical history, initial symptoms, best-corrected visual acuity, ophthalmoscopy, fundus photography, full-field electroretinography (ffERG), Goldmann visual fields (VFs), and spectral-domain optical coherence tomography...
March 13, 2017: Ophthalmology
https://www.readbyqxmd.com/read/28186610/-progress-in-research-on-pathogenic-genes-and-gene-therapy-for-inherited-retinal-diseases
#3
Ling Zhu, Cong Cao, Jiji Sun, Tao Gao, Xiaoyang Liang, Zhipeng Nie, Yanchun Ji, Pingping Jiang, Minxin Guan
Inherited retinal diseases (IRDs), including retinitis pigmentosa, Usher syndrome, Cone-Rod degenerations, inherited macular dystrophy, Leber's congenital amaurosis, Leber's hereditary optic neuropathy are the most common and severe types of hereditary ocular diseases. So far more than 200 pathogenic genes have been identified. With the growing knowledge of the genetics and mechanisms of IRDs, a number of gene therapeutic strategies have been developed in the laboratory or even entered clinical trials. Here the progress of IRD research on the pathogenic genes and therapeutic strategies, particularly gene therapy, are reviewed...
February 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/27385962/bardet-biedl-syndrome
#4
REVIEW
Evgeny N Suspitsin, Evgeny N Imyanitov
Bardet-Biedl syndrome (BBS) is a rare autosomal recessive genetic disorder. It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-cone dystrophy, polydactyly, obesity, genital abnormalities, renal defects, and learning difficulties) and secondary BBS characteristics (developmental delay, speech deficit, brachydactyly or syndactyly, dental defects, ataxia or poor coordination, olfactory deficit, diabetes mellitus, congenital heart disease, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life...
May 2016: Molecular Syndromology
https://www.readbyqxmd.com/read/27228076/genetics-of-bietti-crystalline-dystrophy
#5
REVIEW
Danny S C Ng, Timothy Y Y Lai, Tsz Kin Ng, Chi Pui Pang
Bietti crystalline dystrophy (BCD) is an inherited retinal degenerative disease characterized by crystalline deposits in the retina, followed by progressive atrophy of the retinal pigment epithelium (RPE), choriocapillaris, and photoreceptors. CYP4V2 has been identified as the causative gene for BCD. The CYP4V2 gene belongs to the cytochrome P450 superfamily and encodes for fatty acid ω-hydroxylase of both saturated and unsaturated fatty acids. The CYP4V2 protein is localized most abundantly within the endoplasmic reticulum in the RPE and is postulated to play a role in the physiological lipid recycling system between the RPE and photoreceptors to maintain visual function...
July 2016: Asia-Pacific Journal of Ophthalmology
https://www.readbyqxmd.com/read/27225770/pharmacological-amelioration-of-cone-survival-and-vision-in-a-mouse-model-for-leber-congenital-amaurosis
#6
Songhua Li, Marijana Samardzija, Zhihui Yang, Christian Grimm, Minghao Jin
UNLABELLED: RPE65, an abundant membrane-associate protein in the retinal pigment epithelium (RPE), is a key retinoid isomerase of the visual cycle necessary for generating 11-cis-retinal that functions not only as a molecular switch for activating cone and rod visual pigments in response to light stimulation, but also as a chaperone for normal trafficking of cone opsins to the outer segments. Many mutations in RPE65 are associated with Leber congenital amaurosis (LCA). A R91W substitution, the most frequent LCA-associated mutation, results in a severe decrease in protein level and enzymatic activity of RPE65, causing cone opsin mislocalization and early cone degeneration in the mutation knock-in mouse model of LCA...
May 25, 2016: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/27176872/retinitis-pigmentosa-and-bilateral-cystoid-macular-oedema-in-a-patient-heterozygous-for-the-rim1-mutation-previously-associated-with-cone-rod-dystrophy-7
#7
Alasdair N Warwick, Fatima Shawkat, Andrew J Lotery
BACKGROUND: Autosomal dominant cone-rod dystrophy 7 (CORD7) has been previously associated with the RIM1 c.2459G>A (Arg820His) mutation. Cystoid macular oedema (CMO) is a rare feature of CORD and has not been described in CORD7. We report a patient who was heterozygous for the RIM1 mutation with bilateral CMO and who manifested a retinitis pigmentosa phenotype. MATERIALS AND METHODS: The patient's medical notes were retrospectively reviewed over an 18-month period...
March 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/27116508/a-novel-recessive-rpgrip1-mutation-causing-leber-congenital-amaurosis
#8
H Abouzeid, I S Othman, D F Schorderet
BACKGROUND: Leber congenital amaurosis is an early-onset childhood severe retinal dystrophy, of significant genetic heterogeneity. RPGRIP1 is ubiquitously expressed, but mutations in RPGRIP1 lead to a retina-restricted phenotype, such as Leber congenital amaurosis and cone-rod dystrophy. PATIENT AND METHODS: We analysed a consanguineous family from Egypt in which one individual, a four-year-old girl, was affected with Leber congenital amaurosis. IROme, a proprietary enrichment system for retinal dystrophy genes, was applied and high throughput sequencing was performed...
April 2016: Klinische Monatsblätter Für Augenheilkunde
https://www.readbyqxmd.com/read/26843488/rpgr-associated-retinopathy-clinical-features-molecular-genetics-animal-models-and-therapeutic-options
#9
REVIEW
James J L Tee, Alexander J Smith, Alison J Hardcastle, Michel Michaelides
Retinitis pigmentosa GTPase regulator (RPGR) gene sequence variants account for the vast majority of X linked retinitis pigmentosa (RP), which is one of the most severe forms of RP. Symptoms of nyctalopia typically begin in childhood, with increasing loss of peripheral visual field during teenage years, and progressive central visual loss during the second to fourth decade of life. There is however marked intrafamilial and interfamilial phenotypic heterogeneity in affected males and carrier females. There is now a far greater understanding of the range of phenotypes associated with variants in this gene; including rod-cone dystrophy, cone-rod dystrophy, cone dystrophy, macular dystrophy and non-ocular phenotypes...
August 2016: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/26605849/spectral-sensitivity-measurements-reveal-partial-success-in-restoring-missing-rod-function-with-gene-therapy
#10
Caterina Ripamonti, G Bruce Henning, Scott J Robbie, Venki Sundaram, L Ingeborgh van den Born, Ingele Casteels, Thomy J L de Ravel, Anthony T Moore, Alexander J Smith, James W Bainbridge, Robin R Ali, Andrew Stockman
Restored rod visual function after gene therapy can be established unequivocally by demonstrating that, after dark adaptation, spectral sensitivity has the shape characteristic of rods and that this shape collapses to a cone-like shape before rods have recovered after an intense bleach. We used these tests to assess retinal function in eight young adults and children with early-onset severe retinal dystrophy from Phase II of a clinical gene-therapy trial for RPE65 deficiency that involved the subretinal delivery of a recombinant adeno-associated viral vector carrying RPE65...
2015: Journal of Vision
https://www.readbyqxmd.com/read/26325712/spectral-sensitivity-measurements-reveal-partial-success-in-restoring-missing-rod-function-with-gene-therapy
#11
Andrew Stockman, Bruce Henning, Caterina Ripamonti
Rod visual function can be established with some certainty by demonstrating that dark-adapted visual spectral sensitivity has the shape of the rod (scotopic) spectral sensitivity function and that this scotopic shape collapses to a cone (photopic) shape when cones, but not rods, have recovered following an intense bleach. We used these tests to assess retinal function in eight young adult and child patients with early-onset severe retinal dystrophy enrolled in phase II of a clinical gene therapy trial for RPE65 deficiency, an isomerase, the lack of which disrupts the "visual cycle" upon which rods solely depend for regenerating visual pigment after light exposure...
2015: Journal of Vision
https://www.readbyqxmd.com/read/26009893/genotypic-and-phenotypic-characterization-of-p23h-line-1-rat-model
#12
Elise Orhan, Deniz Dalkara, Marion Neuillé, Christophe Lechauve, Christelle Michiels, Serge Picaud, Thierry Léveillard, José-Alain Sahel, Muna I Naash, Matthew M Lavail, Christina Zeitz, Isabelle Audo
Rod-cone dystrophy, also known as retinitis pigmentosa (RP), is the most common inherited degenerative photoreceptor disease, for which no therapy is currently available. The P23H rat is one of the most commonly used autosomal dominant RP models. It has been created by incorporation of a mutated mouse rhodopsin (Rho) transgene in the wild-type (WT) Sprague Dawley rat. Detailed genetic characterization of this transgenic animal has however never been fully reported. Here we filled this knowledge gap on P23H Line 1 rat (P23H-1) and provide additional phenotypic information applying non-invasive and state-of-the-art in vivo techniques that are relevant for preclinical therapeutic evaluations...
2015: PloS One
https://www.readbyqxmd.com/read/25701872/gene-therapy-into-photoreceptors-and-m%C3%A3-ller-glial-cells-restores-retinal-structure-and-function-in-crb1-retinitis-pigmentosa-mouse-models
#13
Lucie P Pellissier, Peter M Quinn, C Henrique Alves, Rogier M Vos, Jan Klooster, John G Flannery, J Alexander Heimel, Jan Wijnholds
Mutations in the Crumbs-homologue-1 (CRB1) gene lead to severe recessive inherited retinal dystrophies. Gene transfer therapy is the most promising cure for retinal dystrophies and has primarily been applied for recessive null conditions via a viral gene expression vector transferring a cDNA encoding an enzyme or channel protein, and targeting expression to one cell type. Therapy for the human CRB1 disease will be more complex, as CRB1 is a structural and signaling transmembrane protein present in three cell classes: Müller glia, cone and rod photoreceptors...
June 1, 2015: Human Molecular Genetics
https://www.readbyqxmd.com/read/25415434/viral-mediated-rdcvf-and-rdcvfl-expression-protects-cone-and-rod-photoreceptors-in-retinal-degeneration
#14
Leah C Byrne, Deniz Dalkara, Gabriel Luna, Steven K Fisher, Emmanuelle Clérin, Jose-Alain Sahel, Thierry Léveillard, John G Flannery
Alternative splicing of nucleoredoxin-like 1 (Nxnl1) results in 2 isoforms of the rod-derived cone viability factor. The truncated form (RdCVF) is a thioredoxin-like protein secreted by rods that promotes cone survival, while the full-length isoform (RdCVFL), which contains a thioredoxin fold, is involved in oxidative signaling and protection against hyperoxia. Here, we evaluated the effects of these different isoforms in 2 murine models of rod-cone dystrophy. We used adeno-associated virus (AAV) to express these isoforms in mice and found that both systemic and intravitreal injection of engineered AAV vectors resulted in RdCVF and RdCVFL expression in the eye...
January 2015: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/25342276/a-tulp1-founder-mutation-p-gln301-underlies-a-recognisable-congenital-rod-cone-dystrophy-phenotype-on-the-arabian-peninsula
#15
Arif O Khan, Carsten Bergmann, Tobias Eisenberger, Hanno J Bolz
BACKGROUND: In Arabian children referred with retinal dystrophy, we have observed that a specific biallelic nonsense mutation in the gene encoding tubby-like protein 1 (TULP1, c.901C>T (p.Gln301*)) is recurrent. This makes the mutation and its associated childhood retinopathy particularly interesting for genetic diagnostic and, potentially, gene therapy approaches. We characterise the ophthalmic phenotype associated with recessive p.Gln301* mutation in TULP1 and assess the mutation for single founder effect...
April 2015: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/25274777/viral-mediated-vision-rescue-of-a-novel-aipl1-cone-rod-dystrophy-model
#16
Cristy A Ku, Vince A Chiodo, Sanford L Boye, Abigail Hayes, Andrew F X Goldberg, William W Hauswirth, Visvanathan Ramamurthy
Defects in aryl hydrocarbon receptor interacting protein-like1 (AIPL1) are associated with blinding diseases with a wide range of severity in humans. We examined the mechanism behind autosomal dominant cone-rod dystrophy (adCORD) caused by 12 base pair (bp) deletion at proline 351 of hAIPL1 (P351Δ12) mutation in the primate-specific region of human AIPL1. Mutant P351Δ12 human isoform, aryl hydrocarbon receptor interacting protein-like 1 (hAIPL1) mice demonstrated a CORD phenotype with early defects in cone-mediated vision and subsequent photoreceptor degeneration...
February 1, 2015: Human Molecular Genetics
https://www.readbyqxmd.com/read/25256176/leber-congenital-amaurosis-caused-by-mutations-in-gucy2d
#17
REVIEW
Shannon E Boye
Leber congenital amaurosis (LCA) is a clinically and genetically heterogeneous group of diseases that account for the most severe form of early-onset retinal dystrophy. Mutations in retinal guanylate cyclase-1 (GUCY2D) are associated with LCA1, a prevalent form. GUCY2D encodes guanylate cyclase-1 (GC1), a protein expressed in rod and cone photoreceptors that regulates cGMP and Ca(2+) levels within these cells. LCA1 patients present with severely impaired vision, reduced, or ablated electroretinogram and nystagmus...
September 25, 2014: Cold Spring Harbor Perspectives in Medicine
https://www.readbyqxmd.com/read/25056608/differential-targeting-of-feline-photoreceptors-by-recombinant-adeno-associated-viral-vectors-implications-for-preclinical-gene-therapy-trials
#18
A L Minella, F M Mowat, K L Willett, D Sledge, J T Bartoe, J Bennett, S M Petersen-Jones
The cat is emerging as a promising large animal model for preclinical testing of retinal dystrophy therapies, for example, by gene therapy. However, there is a paucity of studies investigating viral vector gene transfer to the feline retina. We therefore sought to study the tropism of recombinant adeno-associated viral (rAAV) vectors for the feline outer retina. We delivered four rAAV serotypes: rAAV2/2, rAAV2/5, rAAV2/8 and rAAV2/9, each expressing green fluorescent protein (GFP) under the control of a cytomegalovirus promoter, to the subretinal space in cats and, for comparison, mice...
October 2014: Gene Therapy
https://www.readbyqxmd.com/read/24903488/identification-of-cnga3-mutations-in-46-families-common-cause-of-achromatopsia-and-cone-rod-dystrophies-in-chinese-patients
#19
Shiqiang Li, Li Huang, Xueshan Xiao, Xiaoyun Jia, Xiangming Guo, Qingjiong Zhang
IMPORTANCE: Mutations in CNGA3 are the most common cause of achromatopsia and cone-rod dystrophies. OBJECTIVE: To identify CNGA3 mutations in patients with cone dystrophies or Leber congenital amaurosis. DESIGN, SETTING, AND PARTICIPANTS: Clinical data and genomic DNA in 267 Chinese probands from 138 families with cone dystrophies and 129 families with Leber congenital amaurosis collected at the Zhongshan Ophthalmic Center, Guangzhou, China...
September 2014: JAMA Ophthalmology
https://www.readbyqxmd.com/read/24860425/insights-gained-from-gene-therapy-in-animal-models-of-retgc1-deficiency
#20
REVIEW
Shannon E Boye
Vertebrate species possess two retinal guanylate cyclases (retGC1 and retGC2) and at least two guanylate cyclase activating proteins (GCAPs), GCAP1 and GCAP2. GCAPs function as Ca(2+) sensors that regulate the activity of guanylate cyclases. Together, these proteins regulate cGMP and Ca(2+) levels within the outer segments of rod and cone photoreceptors. Mutations in GUCY2D, the gene that encodes retGC1, are a leading cause of the most severe form of early onset retinal dystrophy, Leber congenital amaurosis (LCA1)...
2014: Frontiers in Molecular Neuroscience
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