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https://www.readbyqxmd.com/read/29666954/clinical-characteristics-of-a-japanese-patient-with-bardet-biedl-syndrome-caused-by-bbs10-mutations
#1
Kentaro Kurata, Katsuhiro Hosono, Akiko Hikoya, Akihiko Kato, Hirotomo Saitsu, Shinsei Minoshima, Tsutomu Ogata, Yoshihiro Hotta
PURPOSE: Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder characterized by retinal dystrophy, renal dysfunction, central obesity, mental impairment, polydactyly, and hypogonadism. Only limited information on BBS is available from Japanese patients. In addition, there are currently no reports of Japanese patients with BBS caused by BBS10 mutations. The purpose of this study was to present the characteristics of a Japanese patient with BBS caused by BBS10 mutations. PATIENT AND METHODS: The patient was a 22-year-old Japanese woman...
April 17, 2018: Japanese Journal of Ophthalmology
https://www.readbyqxmd.com/read/29666392/synthetic-9-cis-beta-carotene-inhibits-photoreceptor-degeneration-in-cultures-of-eye-cups-from-rpe65rd12-mouse-model-of-retinoid-cycle-defect
#2
Ifat Sher, Adi Tzameret, Sara Peri-Chen, Victoria Edelshtain, Michael Ioffe, Alon Sayer, Ludmila Buzhansky, Ehud Gazit, Ygal Rotenstreich
The retinoid cycle enzymes regenerate the visual chromophore 11-cis retinal to enable vision. Mutations in the genes encoding the proteins of the retinoid cycle are the leading cause for recessively inherited retinal dystrophies such as retinitis pigmentosa, Leber congenital amaurosis, congenital cone-rod dystrophy and fundus albipunctatus. Currently there is no treatment for these blinding diseases. In previous studies we demonstrated that oral treatment with the 9-cis-β-carotene rich Dunaliella Bardawil algae powder significantly improved visual and retinal functions in patients with retinitis pigmentosa and fundus albipunctatus...
April 17, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29666355/therapeutic-avenues-for-hereditary-forms-of-retinal-blindness
#3
Chitra Kannabiran, Indumathi Mariappan
Hereditary retinal diseases, known as retinal degenerations or dystrophies, are a large group of inherited eye disorders resulting in irreversible visual loss and blindness. They develop due to mutations in one or more genes that lead to the death of the retinal photoreceptor cells. Till date, mutations in over 200 genes are known to be associated with all different forms of retinal disorders. The enormous genetic heterogeneity of this group of diseases has posedmany challenges in understanding the mechanisms of disease and in developing suitable therapies...
March 2018: Journal of Genetics
https://www.readbyqxmd.com/read/29664989/choroidal-caverns-a-previously-unreported-optical-coherence-tomography-finding-in-best-vitelliform-dystrophy
#4
Adriano Carnevali, Riccardo Sacconi, Eleonora Corbelli, Lea Querques, Francesco Bandello, Giuseppe Querques
Best vitelliform macular dystrophy (VMD) is an autosomal dominant inherited dystrophy, most frequently caused by mutations in the BEST1 gene. The authors describe "choroidal caverns," a previously unreported optical coherence tomography finding in the choriocapillary and choroid of Best VMD. Histopathologic examination in eyes with Best VDM shows extensive deposition of lipofuscin in the retinal pigment epithelium (RPE) throughout the retina and accumulation of fibrillar material under the RPE and in the choroid...
April 1, 2018: Ophthalmic Surgery, Lasers & Imaging Retina
https://www.readbyqxmd.com/read/29659842/insights-into-the-pathogenesis-of-dominant-retinitis-pigmentosa-associated-with-a-d477g-mutation-in-rpe65
#5
Elliot H Choi, Susie Suh, Christopher L Sander, Christian J Ortiz Hernandez, Elizabeth R Bulman, Nimesh Khadka, Zhiqian Dong, Wuxian Shi, Krzysztof Palczewski, Philip D Kiser
RPE65 is the essential trans-cis isomerase of the classical retinoid (visual) cycle. Mutations in RPE65 give rise to severe retinal dystrophies, most of which are associated with loss of protein function and recessive inheritance. The only known exception is a c.1430G>A (D477G) mutation that gives rise to dominant retinitis pigmentosa with delayed onset and choroidal and macular involvement. Position 477 is distant from functionally critical regions of RPE65. Hence, the mechanism of D477G pathogenicity remains unclear, although protein misfolding and aggregation mechanisms have been suggested...
April 12, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29659094/mertk-mutations-update-in-inherited-retinal-diseases
#6
Isabelle Audo, Saddek Mohand-Said, Elise Boulanger-Scemama, Xavier Zanlonghi, Christel Condroyer, Vanessa Démontant, Fiona Boyard, Aline Antonio, Cécile Méjécase, Said El Shamieh, José-Alain Sahel, Christina Zeitz
MER tyrosine kinase (MERTK) encodes a surface receptor localized at the apical membrane of the retinal pigment epithelium. It plays a critical role in photoreceptor outer segment internalization prior to phagocytosis. Mutations in MERTK have been associated with severe autosomal recessive retinal dystrophies in the RCS rat and in humans. We present here a comprehensive review of all reported MERTK disease causing variants with the associated phenotype. In addition, we provide further data and insights of a large cohort of 1195 inherited retinal dystrophies (IRD) index cases applying state-of-the-art genotyping techniques and summarize current knowledge...
April 16, 2018: Human Mutation
https://www.readbyqxmd.com/read/29625839/choroidal-and-sub-retinal-pigment-epithelium-caverns-multimodal-imaging-and-correspondence-with-friedman-lipid-globules
#7
Rosa Dolz-Marco, Jay P Glover, Orly Gal-Or, Katie M Litts, Jeffrey D Messinger, Yuhua Zhang, Mariano Cozzi, Marco Pellegrini, K Bailey Freund, Giovanni Staurenghi, Christine A Curcio
PURPOSE: To survey Friedman lipid globules by high-resolution histologic examination and to compare with multimodal imaging of hyporeflective caverns in eyes with geographic atrophy (GA) secondary to age-related macular (AMD) and other retinal diseases. DESIGN: Histologic survey of donor eyes with and without AMD. Clinical case series with multimodal imaging analysis. PARTICIPANTS: Donor eyes (n = 139; 26 with early AMD, 13 with GA, 40 with nAMD, 52 with a healthy macula, and 8 with other or unknown characteristics) and 41 eyes of 28 participants with GA (n = 16), nAMD (n = 8), Stargardt disease (n = 4), cone dystrophy (n = 2), pachychoroid spectrum (n = 6), choroidal hemangioma (n = 1), and healthy eyes (n = 4)...
April 3, 2018: Ophthalmology
https://www.readbyqxmd.com/read/29597005/non-syndromic-retinitis-pigmentosa
#8
REVIEW
Sanne K Verbakel, Ramon A C van Huet, Camiel J F Boon, Anneke I den Hollander, Rob W J Collin, Caroline C W Klaver, Carel B Hoyng, Ronald Roepman, B Jeroen Klevering
Retinitis pigmentosa (RP) encompasses a group of inherited retinal dystrophies characterized by the primary degeneration of rod and cone photoreceptors. RP is a leading cause of visual disability, with a worldwide prevalence of 1:4000. Although the majority of RP cases are non-syndromic, 20-30% of patients with RP also have an associated non-ocular condition. RP typically manifests with night blindness in adolescence, followed by concentric visual field loss, reflecting the principal dysfunction of rod photoreceptors; central vision loss occurs later in life due to cone dysfunction...
March 26, 2018: Progress in Retinal and Eye Research
https://www.readbyqxmd.com/read/29581279/reduction-of-lipid-accumulation-rescues-bietti-s-crystalline-dystrophy-phenotypes
#9
Masayuki Hata, Hanako O Ikeda, Sachiko Iwai, Yuto Iida, Norimoto Gotoh, Isao Asaka, Kazutaka Ikeda, Yosuke Isobe, Aya Hori, Saori Nakagawa, Susumu Yamato, Makoto Arita, Nagahisa Yoshimura, Akitaka Tsujikawa
Bietti's crystalline dystrophy (BCD) is an intractable and progressive chorioretinal degenerative disease caused by mutations in the CYP4V2 gene, resulting in blindness in most patients. Although we and others have shown that retinal pigment epithelium (RPE) cells are primarily impaired in patients with BCD, the underlying mechanisms of RPE cell damage are still unclear because we lack access to appropriate disease models and to lesion-affected cells from patients with BCD. Here, we generated human RPE cells from induced pluripotent stem cells (iPSCs) derived from patients with BCD carrying a CYP4V2 mutation and successfully established an in vitro model of BCD, i...
March 26, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29578069/crispr-cas9-genome-engineering-treating-inherited-retinal-degeneration
#10
REVIEW
Erin R Burnight, Joseph C Giacalone, Jessica A Cooke, Jessica R Thompson, Laura R Bohrer, Kathleen R Chirco, Arlene V Drack, John H Fingert, Kristan S Worthington, Luke A Wiley, Robert F Mullins, Edwin M Stone, Budd A Tucker
Gene correction is a valuable strategy for treating inherited retinal degenerative diseases, a major cause of irreversible blindness worldwide. Single gene defects cause the majority of these retinal dystrophies. Gene augmentation holds great promise if delivered early in the course of the disease, however, many patients carry mutations in genes too large to be packaged into adeno-associated viral vectors and some, when overexpressed via heterologous promoters, induce retinal toxicity. In addition to the aforementioned challenges, some patients have sustained significant photoreceptor cell loss at the time of diagnosis, rendering gene replacement therapy insufficient to treat the disease...
March 22, 2018: Progress in Retinal and Eye Research
https://www.readbyqxmd.com/read/29576896/stem-cell-treatment-in-retinal-diseases-recent-developments
#11
REVIEW
Ayşe Öner
Stem cells are undifferentiated cells which have the ability to self-renew and differentiate into mature cells. They are highly proliferative, implying that an unlimited number of mature cells can be generated from a given stem cell source. On this basis, stem cell replacement therapy has been evaluated in recent years as an alternative for various pathologies. Degenerative retinal diseases cause progressive visual decline which originates from continuing loss of photoreceptor cells and outer nuclear layers...
February 2018: Turkish Journal of Ophthalmology
https://www.readbyqxmd.com/read/29570997/gene-therapy-for-retinal-degeneration
#12
Rajendra S Apte
Biallelic mutations in the RPE65 gene are associated with inherited retinal degenerations/dystrophies (IRD) and disrupt the visual cycle, leading to loss of vision. A new adenoviral vector-based gene therapy surgically delivered to retinal cells provides normal human RPE65 protein that can restore the visual cycle and some vision. To view this Bench to Bedside, open or download the PDF.
March 22, 2018: Cell
https://www.readbyqxmd.com/read/29564403/prospect-of-retinal-gene-therapy-following-commercialization-of-voretigene-neparvovec-rzyl-for-retinal-dystrophy-mediated-by-rpe65-mutation
#13
EDITORIAL
Hossein Ameri
No abstract text is available yet for this article.
March 2018: Journal of Current Ophthalmology
https://www.readbyqxmd.com/read/29559409/expanded-retinal-disease-spectrum-associated-with-autosomal-recessive-mutations-in-gucy2d
#14
Maria L Stunkel, Scott E Brodie, Artur V Cideciyan, Wanda L Pfeifer, Elizabeth L Kennedy, Edwin M Stone, Samuel G Jacobson, Arlene V Drack
PURPOSE: GUCY2D has been associated with autosomal recessive Leber Congenital Amaurosis and autosomal dominant cone-rod dystrophy. This report expands the phenotype of autosomal recessive mutations to congenital night blindness which may slowly progress to retinitis pigmentosa. DESIGN: Retrospective case series. METHODS: Multicenter study of five patients (3 male, 2 female). RESULTS: All presented with night blindness since childhood...
March 17, 2018: American Journal of Ophthalmology
https://www.readbyqxmd.com/read/29555955/clinical-and-genetic-characteristics-of-251-consecutive-patients-with-macular-and-cone-cone-rod-dystrophy
#15
Johannes Birtel, Tobias Eisenberger, Martin Gliem, Philipp L Müller, Philipp Herrmann, Christian Betz, Diana Zahnleiter, Christine Neuhaus, Steffen Lenzner, Frank G Holz, Elisabeth Mangold, Hanno J Bolz, Peter Charbel Issa
Macular and cone/cone-rod dystrophies (MD/CCRD) demonstrate a broad genetic and phenotypic heterogeneity, with retinal alterations solely or predominantly involving the central retina. Targeted next-generation sequencing (NGS) is an efficient diagnostic tool for identifying mutations in patient with retinitis pigmentosa, which shows similar genetic heterogeneity. To detect the genetic causes of disease in patients with MD/CCRD, we implemented a two-tier procedure consisting of Sanger sequencing and targeted NGS including genes associated with clinically overlapping conditions...
March 19, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29555514/congenital-muscular-dystrophy-dystroglycanopathy-type-a-featuring-bilateral-retinal-dysplasia-and-vertical-angle-kappa
#16
Timothy J Peiris, Maanasa Indaram, Euna Koo, Janet S Soul, David G Hunter
No abstract text is available yet for this article.
March 16, 2018: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/29555028/molecular-genetics-%C3%A2-characterization-and-homology-modeling-of-the-chm-gene-mutation-a-study-on-its-association-with-choroideremia
#17
REVIEW
Saber Imani, Iqra Ijaz, Marzieh Dehghan Shasaltaneh, Shangyi Fu, Jingliang Cheng, Junjiang Fu
Choroideremia (CHM) is a rare form of X-linked chorioretinal dystrophy that is caused by mutations in the CHM gene. Mutations in the Rab escort protein-1 (REP-1), an ubiquitously encoded protein of the CHM gene, lead to prenylation and vesicle trafficking deficiency in the protein, resulting in the progressive degeneration of choriocapillaris, retinal pigment epithelium (RPE), and photoreceptors. Despite previous studies concerning this disease, no effective diagnostic tests or established therapeutic interventions currently exist for CHM...
January 2018: Mutation Research
https://www.readbyqxmd.com/read/29550188/a-distinct-phenotype-of-eyes-shut-homolog-eys-retinitis-pigmentosa-is-associated-with-variants-near-the-c-terminus
#18
Jesse D Sengillo, Winston Lee, Takayuki Nagasaki, Kaspar Schuerch, Lawrence A Yannuzzi, K Bailey Freund, Janet Sparrow, Rando Allikmets, Stephen H Tsang
PURPOSE: Mutations in the eyes shut homolog (EYS) gene are a frequent cause of autosomal recessive retinitis pigmentosa (arRP). This study used multi-modal retinal imaging to elucidate genotype-phenotype relationships in EYS-related RP (EYS-RP). DESIGN: Cross-sectional study. METHOD: Multimodal retinal imaging and electrophysiologic testing was assessed for 16 patients with genetic confirmation of EYS-RP. RESULTS: A total of 27 unique EYS variants were identified in 16 patients...
March 14, 2018: American Journal of Ophthalmology
https://www.readbyqxmd.com/read/29542350/pharmacotherapy-of-retinal-disease-with-visual-cycle-modulators
#19
Rehan M Hussain, Ninel Z Gregori, Thomas A Ciulla, Byron L Lam
Pharmacotherapy with visual cycle modulators (VCMs) is under investigation for retinitis pigmentosa (RP), Leber congenital amaurosis (LCA), Stargardt macular dystrophy (SMD) and nonexudative age-related macular degeneration (AMD), all blinding diseases that lack effective treatment options. Areas covered: The authors review investigational VCMs, including oral retinoids, 9-cis-retinyl-acetate (zuretinol) and 9-cis-β-carotene, which restore 11-cis-retinal levels in RP and LCA caused by LRAT and RPE65 gene mutations, and may improve visual acuity and visual fields...
March 15, 2018: Expert Opinion on Pharmacotherapy
https://www.readbyqxmd.com/read/29534263/-ciliopathies
#20
Christina Gerth-Kahlert, Samuel Koller
Ciliopathies are disorders caused by ciliary dysfunction and can affect an organ system or tissues. Isolated or syndromic retinal dystrophies are the most common ocular manifestation of ciliopathies. The photoreceptor connecting cilium plays a leading role in these ciliopathy-related retinal dystrophies. Dysfunctional photoreceptor cilia cause the most severe type of retinal dystrophy: Leber's congenital amaurosis (LCA). The most common syndromic ciliopathies with an ocular manifestation are Bardet-Biedl syndrome (BBS) and Usher syndrome...
March 2018: Klinische Monatsblätter Für Augenheilkunde
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