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https://www.readbyqxmd.com/read/29236135/-retinal-dystrophy-with-kidney-disease
#1
B Hohberger, F Reil, R Meiller
No abstract text is available yet for this article.
December 13, 2017: Der Ophthalmologe: Zeitschrift der Deutschen Ophthalmologischen Gesellschaft
https://www.readbyqxmd.com/read/29234872/-multimodal-imaging-in-goldmann-favre-syndrome
#2
D Valler, M Ulbig, C P Lohmann, M Maier
Case report of a 23-year-old male patient suffering from Goldmann-Favre syndrome. The patient reported bilateral visual loss since 10 years of age and difficulties with dark adaptation for 2 years. Until recently a final diagnosis was not found. Multimodal imaging using multicolor fundus imaging (MCFI), optical coherence tomography (OCT), fundus autofluorescence (FAF), fluorescein angiography (FLA), electroretinography (ERG) and visual evoked potential (VEP) confirmed the diagnosis. We describe multimodal imaging of this rare hereditary retinal dystrophy...
December 12, 2017: Der Ophthalmologe: Zeitschrift der Deutschen Ophthalmologischen Gesellschaft
https://www.readbyqxmd.com/read/29217020/cataract-surgery-outcomes-and-complications-in-retinal-dystrophy-patients
#3
Emma C Davies, Roberto Pineda
OBJECTIVE: To investigate intraoperative complications, postoperative findings, and visual acuity outcomes in patients with retinal dystrophy after cataract surgery. DESIGN: Retrospective chart review at an academic tertiary referral centre. PARTICIPANTS: Thirty eyes from 18 patients with retinitis pigmentosa and other retinal dystrophies (Usher syndrome, Refsum disease, and Leber congenital amaurosis) who underwent cataract surgery were identified by searching the electronic medical record system from January 2010 to September 2015 for all patients treated by a single physician with billing codes for retinal dystrophy and cataract surgery...
December 2017: Canadian Journal of Ophthalmology. Journal Canadien D'ophtalmologie
https://www.readbyqxmd.com/read/29215532/imaging-of-vitelliform-macular-lesions-using-polarization-sensitive-optical-coherence-tomography
#4
Gábor G Deák, Wolfgang M Schmidt, Reginald E Bittner, Georgios Mylonas, Philipp K Roberts, Stefan Zotter, Bernhard Baumann, Michael Pircher, Christoph K Hitzenberger, Ursula M Schmidt-Erfurth, Markus Ritter
PURPOSE: To examine the involvement of the retinal pigment epithelium (RPE) in the presence of vitelliform macular lesions (VML) in Best vitelliform macular dystrophy (BVMD), autosomal recessive bestrophinopathy, and adult-onset vitelliform macular degeneration using polarization-sensitive optical coherence tomography (PS-OCT). METHODS: A total of 35 eyes of 18 patients were imaged using a PS-OCT system and blue light fundus autofluorescence imaging. Pathogenic mutations in the BEST1 gene, 3 of which were new, were detected in all patients with BVMD and autosomal recessive bestrophinopathy...
December 5, 2017: Retina
https://www.readbyqxmd.com/read/29214314/quantitative-fundus-autofluorescence-in-pseudoxanthoma-elasticum
#5
Martin Gliem, Philipp L Müller, Johannes Birtel, Myra B McGuinness, Robert P Finger, Philipp Herrmann, Doris Hendig, Frank G Holz, Peter Charbel Issa
Purpose: To quantify lipofuscin-associated fundus autofluorescence in patients with pseudoxanthoma elasticum (PXE), a model disease for Bruch's membrane pathology. Methods: In this prospective, monocenter, cross-sectional case-control study, 49 patients with PXE (mean age: 46 years, range 18-62) underwent quantitative fundus autofluorescence (qAF) imaging with a modified scanning laser ophthalmoscope containing an internal fluorescent reference for normalization of images...
December 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/29212538/a-pilot-investigation-of-audiovisual-processing-and-multisensory-integration-in-patients-with-inherited-retinal-dystrophies
#6
Mark H Myers, Alessandro Iannaccone, Gavin M Bidelman
BACKGROUND: In this study, we examined audiovisual (AV) processing in normal and visually impaired individuals who exhibit partial loss of vision due to inherited retinal dystrophies (IRDs). METHODS: Two groups were analyzed for this pilot study: Group 1 was composed of IRD participants: two with autosomal dominant retinitis pigmentosa (RP), two with autosomal recessive cone-rod dystrophy (CORD), and two with the related complex disorder, Bardet-Biedl syndrome (BBS); Group 2 was composed of 15 non-IRD participants (controls)...
December 7, 2017: BMC Ophthalmology
https://www.readbyqxmd.com/read/29210963/central-ellipsoid-loss-associated-with-cone-dystrophy-and-kcnv2-mutation
#7
David Xu, Daniel Su, Steven Nusinowitz, David Sarraf
PURPOSE: To report a case of central ellipsoid loss with supernormal rod electroretinogram and KCNV2 gene mutation. METHODS: Retrospective case report. PATIENT: Thirty-eight-year-old man. RESULTS: We report a patient with longstanding vision loss and photophobia who illustrated central atrophy of the inner segment ellipsoid zone band on spectral domain optical coherence tomography. Fundus autofluorescence displayed mild perifoveal mottled autofluorescence...
November 23, 2017: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/29209045/mir-211-is-essential-for-adult-cone-photoreceptor-maintenance-and-visual-function
#8
Sara Barbato, Elena Marrocco, Daniela Intartaglia, Mariateresa Pizzo, Sabrina Asteriti, Federica Naso, Danila Falanga, Rajeshwari S Bhat, Nicola Meola, Annamaria Carissimo, Marianthi Karali, Haydn M Prosser, Lorenzo Cangiano, Enrico Maria Surace, Sandro Banfi, Ivan Conte
MicroRNAs (miRNAs) are key post-transcriptional regulators of gene expression that play an important role in the control of fundamental biological processes in both physiological and pathological conditions. Their function in retinal cells is just beginning to be elucidated, and a few have been found to play a role in photoreceptor maintenance and function. MiR-211 is one of the most abundant miRNAs in the developing and adult eye. However, its role in controlling vertebrate visual system development, maintenance and function so far remain incompletely unexplored...
December 5, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29204067/heterozygous-mutation-in-otx2-associated-with-early-onset-retinal-dystrophy-with-atypical-maculopathy
#9
Maram Ea Abdalla-Elsayed, Patrik Schatz, Christine Neuhaus, Arif O Khan
Purpose: Heterozygous mutations in OTX2 have been associated with a range of ocular and pituitary abnormalities. We report a novel heterozygous deletion in OTX2 underlying early-onset retinal dystrophy with atypical maculopathy. Methods: Clinical examination included electroretinography and multimodal retinal imaging. Molecular genetic testing was composed of next-generation sequencing of a panel of retinal dystrophy genes. Results: A now 17-year-old boy presented 12 years earlier with a history of progressively poor vision since birth, nyctalopia, and early-onset retinal dystrophy with atypical maculopathy...
2017: Molecular Vision
https://www.readbyqxmd.com/read/29203866/rpgrip1-is-required-for-rod-outer-segment-development-and-ciliary-protein-trafficking-in-zebrafish
#10
Rakesh K Raghupathy, Xun Zhang, Fei Liu, Reem H Alhasani, Lincoln Biswas, Saeed Akhtar, Luyuan Pan, Cecilia B Moens, Wenchang Li, Mugen Liu, Breandan N Kennedy, Xinhua Shu
Mutations in the RPGR-interacting protein 1 (RPGRIP1) gene cause recessive Leber congenital amaurosis (LCA), juvenile retinitis pigmentosa (RP) and cone-rod dystrophy. RPGRIP1 interacts with other retinal disease-causing proteins and has been proposed to have a role in ciliary protein transport; however, its function remains elusive. Here, we describe a new zebrafish model carrying a nonsense mutation in the rpgrip1 gene. Rpgrip1homozygous mutants do not form rod outer segments and display mislocalization of rhodopsin, suggesting a role for RPGRIP1 in rhodopsin-bearing vesicle trafficking...
December 4, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29200130/diffuse-retinal-vascular-leakage-and-cone-rod-dystrophy-in-a-family-with-the-homozygous-missense-c-1429g-a-p-gly477arg-mutation-in-crb1
#11
Hamed Al Sulaiman, Patrik Schatz, Sawsan R Nowilaty, Ehab Abdelkader, Leen Abu Safieh
PURPOSE: To describe a specific cone-rod dystrophy phenotype in a family with the homozygous c.1429G>A; p.Gly477Arg mutation in CRB1. The detailed phenotype of subjects with this specific mutation has not been described previously. METHODS: Clinical examination included full-field electroretinography and high-resolution and widefield retinal imaging and uveitis workup. Molecular genetic analysis included next-generation sequencing of known retinal dystrophy genes and Sanger sequencing for segregation analysis...
December 1, 2017: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/29198644/the-diagnostic-usefulness-of-the-negative-electroretinogram
#12
C Fuente García, J J González-López, F J Muñoz-Negrete, G Rebolleda
The definition of the negative response of the full field electroretinogram is the presence of a b-wave with less amplitude than the a-wave (b/a ratio<1) in the combined response of cones and rods. The presence of this pattern reflects an alteration in the bipolar cells, the Müller cells, or in the transmission of the stimulus from the photoreceptors to the bipolar cells, with preserved photoreceptor function. This finding can be seen bilaterally and symmetrically in different hereditary conditions, such as congenital stationary night blindness, juvenile X-linked retinoschisis, and Duchenne and Becker muscular dystrophies...
November 30, 2017: Archivos de la Sociedad Española de Oftalmología
https://www.readbyqxmd.com/read/29195058/essential-role-of-ift140-in-promoting-dentinogenesis
#13
G Li, M Liu, S Zhang, H Wan, Q Zhang, R Yue, X Yan, X Wang, Z Wang, Y Sun
Primary cilia, with highly regulated cellular sensory functions, play key roles in tissue development and function maintenance. Intraflagellar transport 140 (IFT140) is a subunit of IFT complex A, which is specialized for retrograde transportation in cilia. Mutations of Ift140 are usually associated with syndromic ciliopathy and may cause isolated diseases such as retinal dystrophy, short ribs, and polycystic kidney. However, the role of IFT140 in tooth development has not been well investigated. In this study, a close relationship between IFT140 and dentin formation is disclosed...
November 1, 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/29193763/identification-of-a-novel-rpgrip1-mutation-in-an-iranian-family-with-leber-congenital-amaurosis-by-exome-sequencing
#14
Saber Imani, Jingliang Cheng, Abdolkarim Mobasher-Jannat, Chunli Wei, Shangyi Fu, Lisha Yang, Khosrow Jadidi, Mohammad Hossein Khosravi, Saman Mohazzab-Torabi, Marzieh Dehghan Shasaltaneh, Yumei Li, Rui Chen, Junjiang Fu
Leber congenital amaurosis (LCA) is a heterogeneous, early-onset inherited retinal dystrophy, which is associated with severe visual impairment. We aimed to determine the disease-causing variants in Iranian LCA and evaluate the clinical implications. Clinically, a possible LCA disease was found through diagnostic imaging, such as fundus photography, autofluorescence and optical coherence tomography. All affected patients showed typical eye symptoms associated with LCA including narrow arterioles, blindness, pigmentary changes and nystagmus...
November 29, 2017: Journal of Cellular and Molecular Medicine
https://www.readbyqxmd.com/read/29193673/ophthalmic-features-of-cone-rod-dystrophy-caused-by-pathogenic-variants-in-the-alms1-gene
#15
Fadi Nasser, Nicole Weisschuh, Pietro Maffei, Gabriella Milan, Corina Heller, Eberhart Zrenner, Susanne Kohl, Laura Kuehlewein
PURPOSE: We aim to describe ophthalmic characteristics and systemic findings in a cohort of seven patients with cone-rod retinal dystrophy (CORD) caused by pathogenic variants in the ALMS1 gene. METHODS: Seven patients with Alström syndrome (ALMS) were included in the study. A comprehensive ophthalmological examination was performed, including best-corrected visual acuity (BCVA), a semiautomated kinetic visual field exam, colour vision testing, full-field electroretinography testing according to International Society for Clinical Electrophysiology of Vision (ISCEV) standards, spectral domain optical coherence tomography (SD-OCT) and fundus autofluorescence (FAF) imaging, and slit lamp and dilated fundus examination...
November 30, 2017: Acta Ophthalmologica
https://www.readbyqxmd.com/read/29188506/design-and-in-vitro-use-of-antisense-oligonucleotides-to-correct-pre-mrna-splicing-defects-in-inherited-retinal-dystrophies
#16
Alejandro Garanto, Rob W J Collin
Antisense oligonucleotides (AONs) are small molecules able to bind to the pre-mRNA and modulate splicing. The increasing amount of intronic mutations leading to pseudoexon insertion in genes underlying inherited retinal dystrophies (IRDs) has highlighted the potential of AONs as a therapeutic tool for these disorders. Here we describe how to design and test AON molecules in vitro in order to correct pre-mRNA splicing defects involved in IRDs.
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29186038/molecular-screening-of-43-brazilian-families-diagnosed-with-leber-congenital-amaurosis-or-early-onset-severe-retinal-dystrophy
#17
Fernanda B O Porto, Evan M Jones, Justin Branch, Zachry T Soens, Igor Mendes Maia, Isadora F G Sena, Shirley A M Sampaio, Renata T Simões, Rui Chen
Leber congenital amaurosis (LCA) is a severe disease that leads to complete blindness in children, typically before the first year of life. Due to the clinical and genetic heterogeneity among LCA and other retinal diseases, providing patients with a molecular diagnosis is essential to assigning an accurate clinical diagnosis. Using our gene panel that targets 300 genes that are known to cause retinal disease, including 24 genes reported to cause LCA, we sequenced 43 unrelated probands with Brazilian ancestry...
November 29, 2017: Genes
https://www.readbyqxmd.com/read/29184169/nmnat1-variants-cause-cone-and-cone-rod-dystrophy
#18
Benjamin M Nash, Richard Symes, Himanshu Goel, Marcel E Dinger, Bruce Bennetts, John R Grigg, Robyn V Jamieson
Cone and cone-rod dystrophies (CD and CRD, respectively) are degenerative retinal diseases that predominantly affect the cone photoreceptors. The underlying disease gene is not known in approximately 75% of autosomal recessive cases. Variants in NMNAT1 cause a severe, early-onset retinal dystrophy called Leber congenital amaurosis (LCA). We report two patients where clinical phenotyping indicated diagnoses of CD and CRD, respectively. NMNAT1 variants were identified, with Case 1 showing an extremely rare homozygous variant c...
November 28, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29179637/cone-dystrophy-and-ectopic-synaptogenesis-in-a-cacna1f-loss-of-function-model-of-congenital-stationary-night-blindness-csnb2a
#19
D M Waldner, N C Giraldo Sierra, S Bonfield, L Nguyen, I S Dimopoulos, Y Sauvé, W K Stell, N T Bech-Hansen
Congenital stationary night blindness 2A (CSNB2A) is an X-linked retinal disorder, characterized by phenotypically variable signs and symptoms of impaired vision. CSNB2A is due to mutations in CACNA1F, which codes for the pore-forming α1F subunit of a L-type voltage-gated calcium channel, Cav1.4. Mouse models of CSNB2A, used for characterizing the effects of various Cacna1f mutations, have revealed greater severity of defects than in human CSNB2A. Specifically, Cacna1f-knockout mice show an apparent lack of visual function, gradual retinal degeneration, and disruption of photoreceptor synaptic terminals...
November 28, 2017: Channels
https://www.readbyqxmd.com/read/29178642/the-genetic-profile-of-leber-congenital-amaurosis-in-an-australian-cohort
#20
Jennifer A Thompson, John N De Roach, Terri L McLaren, Hannah E Montgomery, Ling H Hoffmann, Isabella R Campbell, Fred K Chen, David A Mackey, Tina M Lamey
BACKGROUND: Leber congenital amaurosis (LCA) is a severe visual impairment responsible for infantile blindness, representing ~5% of all inherited retinal dystrophies. LCA encompasses a group of heterogeneous disorders, with 24 genes currently implicated in pathogenesis. Such clinical and genetic heterogeneity poses great challenges for treatment, with personalized therapies anticipated to be the best treatment candidates. Unraveling the individual genetic etiology of disease is a prerequisite for personalized therapies, and could identify potential treatment candidates, inform patient management, and discriminate syndromic forms of disease...
November 2017: Molecular Genetics & Genomic Medicine
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