keyword
https://read.qxmd.com/read/36067420/a-double-hyperautofluorescent-ring-in-a-33-year-old-female-patient
#21
JOURNAL ARTICLE
Mariana M da Palma, Molly Marrra, Mark E Pennesi
PURPOSE: To describe the clinical phenotype and molecular diagnosis of a patient with atypical presentation of Enhanced S-cone Syndrome. METHODS: This is a case report of a patient that underwent best-corrected visual acuity, slit-lamp exam, fundus exam, autofluorescence, optical coherence tomography, kinetic perimetry, full-field electroretinography. Genetic testing was performed via next-generation sequencing. RESULTS: A 33-years-old female patient presented with mild nyctalopia but normal rod function measured by electroretinogram and foveoschisis on OCT...
September 2, 2022: Retinal Cases & Brief Reports
https://read.qxmd.com/read/36011372/a-mouse-model-with-ablated-asparaginase-and-isoaspartyl-peptidase-1-asrgl1-develops-early-onset-retinal-degeneration-rd-recapitulating-the-human-phenotype
#22
JOURNAL ARTICLE
Pooja Biswas, Anne Marie Berry, Qais Zawaydeh, Dirk-Uwe G Bartsch, Pongali B Raghavendra, J Fielding Hejtmancik, Naheed W Khan, S Amer Riazuddin, Radha Ayyagari
We previously identified a homozygous G178R mutation in human ASRGL1 ( hASRGL1 ) through whole-exome analysis responsible for early onset retinal degeneration (RD) in patients with cone-rod dystrophy. The mutant G178R ASRGL1 expressed in Cos-7 cells showed altered localization, while the mutant ASRGL1 in E. coli lacked the autocatalytic activity needed to generate the active protein. To evaluate the effect of impaired ASRGL1 function on the retina in vivo, we generated a mouse model with c.578_579insAGAAA (NM_001083926...
August 17, 2022: Genes
https://read.qxmd.com/read/36007168/congenital-posterior-polar-chorioretinal-hypoplasia-expansion-of-the-clinical-spectrum-mutation-and-its-association-with-prdm13
#23
JOURNAL ARTICLE
Kent W Small, Caroline A Tawfik, Nitin Udar, Uma Udar, Jessica Avetisjan, Lamia A El-Aidy, Fadi S Shaya
PURPOSE: To describe a new ocular phenotype in a single Egyptian family associated with a heterozygous non-coding mutation in the North Carolina macular dystrophy (NCMD/MCDR1) locus, likely affecting the PRDM13 gene. METHODS: A retrospective, clinical chart review of eleven members of a four generation family. Comprehensive ophthalmic examinations included visual acuity, refraction, fundus imaging, SD-OCT, and full-field electroretinography (ERG). Molecular genetic analysis of the MCDR1 region was performed using whole genome and targeted sequencing...
August 23, 2022: Retina
https://read.qxmd.com/read/35870488/correlations-of-full-field-stimulus-threshold-with-functional-and-anatomical-outcome-measurements-in-advanced-retinitis-pigmentosa
#24
JOURNAL ARTICLE
Wei Kiong Ngo, Laura A Jenny, Angela H Kim, Masha Kolesnikova, Vivienne C Greenstein, Stephen H Tsang
PURPOSE: To compare FST threshold values to conventional functional and anatomical measures commonly used in clinical practice. DESIGN: Cross-sectional study. METHODS: Patients with retinitis pigmentosa (RP) with non-detectable electroretinogram (ERG) rod mediated responses and light-adapted 3.0 cd·s·m2 30-Hz flicker (LA 3.0 flicker) amplitudes of 15mV or less were included in this study. The threshold values for blue, white and red stimuli on FST were correlated with best corrected visual acuity, LA 3...
July 20, 2022: American Journal of Ophthalmology
https://read.qxmd.com/read/35742873/eliminating-synaptic-ribbons-from-rods-and-cones-halves-the-releasable-vesicle-pool-and-slows-down-replenishment
#25
JOURNAL ARTICLE
Chris S Mesnard, Cody L Barta, Asia L Sladek, David Zenisek, Wallace B Thoreson
Glutamate release from rod and cone photoreceptor cells involves presynaptic ribbons composed largely of the protein RIBEYE. To examine roles of ribbons in rods and cones, we studied mice in which GCamP3 replaced the B-domain of RIBEYE. We discovered that ribbons were absent from rods and cones of both knock-in mice possessing GCamP3 and conditional RIBEYE knockout mice. The mice lacking ribbons showed reduced temporal resolution and contrast sensitivity assessed with optomotor reflexes. ERG recordings showed 50% reduction in scotopic and photopic b-waves...
June 8, 2022: International Journal of Molecular Sciences
https://read.qxmd.com/read/35605759/altered-retinal-structure-and-function-in-spinocerebellar-ataxia-type-3
#26
JOURNAL ARTICLE
Vasileios Toulis, Ricardo Casaroli-Marano, Anna Camós-Carreras, Marc Figueras-Roca, Bernardo Sánchez-Dalmau, Esteban Muñoz, Naila S Ashraf, Ana F Ferreira, Naheed Khan, Gemma Marfany, Maria do Carmo Costa
Spinocerebellar ataxia type 3 (SCA3) is an autosomal dominant neurodegenerative disorder caused by expansion of a polyglutamine (polyQ)-encoding CAG repeat in the ATXN3 gene. Because the ATXN3 protein regulates photoreceptor ciliogenesis and phagocytosis, we aimed to explore whether expanded polyQ ATXN3 impacts retinal function and integrity in SCA3 patients and transgenic mice. We evaluated the retinal structure and function in five patients with SCA3 and in a transgenic mouse model of this disease (YACMJD84...
August 2022: Neurobiology of Disease
https://read.qxmd.com/read/35594040/electrophysiological-assessment-in-birdshot-chorioretinopathy-flicker-electroretinograms-recorded-with-a-handheld-device
#27
JOURNAL ARTICLE
Anna M Waldie, Angharad E Hobby, Isabelle Chow, Elisa E Cornish, Mathura Indusegaran, Aleksandra Pekacka, Phuc Nguyen, Clare Fraser, Alison M Binns, Miles R Stanford, Christopher J Hammond, Peter J McCluskey, John R Grigg, Omar A Mahroo
Purpose: The flicker electroretinogram (ERG) is a sensitive indicator of retinal dysfunction in birdshot chorioretinopathy (BCR). We explored recordings from a handheld device in BCR, comparing these with conventional recordings in the same patients and with handheld ERGs from healthy individuals. Methods: Non-mydriatic flicker ERGs, using the handheld RETeval system (LKC Technologies), were recorded with skin electrodes at two centers. At one center (group 1), the stimuli (85 Td·s, 850 Td background) delivered retinal illuminance equivalent to international standards; at the other center (group 2), a different protocol was used (32 Td·s, no background)...
May 2, 2022: Translational Vision Science & Technology
https://read.qxmd.com/read/35484846/-rp1-associated-recessive-retinitis-pigmentosa-caused-by-paternal-uniparental-disomy
#28
JOURNAL ARTICLE
Emma C Bedoukian, Erin C O'Neil, Tomas S Aleman
BACKGROUND: We report on a patient with a juvenile-onset inherited retinal degeneration (IRD) associated with homozygous RP1 mutations inherited by uniparental disomy (UPD). MATERIAL AND METHODS: A 6-year-old healthy girl failed school vision screening and was diagnosed with a bull's eye maculopathy. She underwent complete ophthalmic examination, full-field electroretinograms (ERG), kinetic fields, full-field sensitivity testing (FST), and retinal imaging with spectral domain optical coherence tomography (SD-OCT) and near-infrared (NIR) and short wavelength (SW) fundus autofluorescence (FAF)...
August 2022: Ophthalmic Genetics
https://read.qxmd.com/read/35456959/erg-and-behavioral-cff-in-light-damaged-albino-rats
#29
JOURNAL ARTICLE
Glen R Rubin, Yuquan Wen, Michael S Loop, Timothy W Kraft
The full-field ERG is useful for index rod- or cone-mediated retinal function in rodent models of retinal degeneration. However, the relationship between the ERG response amplitudes and visually guided behavior, such as flicker detection, is not well understood. A comparison of ERG to behavioral responses in a light-damage model of retinal degeneration allows us to better understand the functional implications of electrophysiological changes. Flicker-ERG and behavioral responses to flicker were used to determine critical flicker frequency (CFF) under scotopic and photopic conditions before and up to 90 d after a 10-day period of low-intensity light damage...
April 8, 2022: International Journal of Molecular Sciences
https://read.qxmd.com/read/35355858/neovascularization-of-the-optic-disc-and-peripheral-retinal-ischemia-in-a-child-with-a-novel-variant-in-alms1-alstr%C3%A3-m-syndrome
#30
Melinda Y Chang, Mark S Borchert, Ryan Schmidt, Aaron Nagiel
Purpose: The ophthalmologic findings in Alström syndrome include cone-rod dystrophy, optic atrophy, optic disc drusen, and retinal telangiectasias with exudative retinopathy. Here we describe peripheral retinal non-perfusion with neovascularization of the disc (NVD) in a child with Alström syndrome-related cone-rod dystrophy. Observations: A six-year-old girl with a diagnosis of Alström syndrome based on a homozygous nonsense likely pathogenic variant in ALMS1 (NM_015120...
June 2022: American Journal of Ophthalmology Case Reports
https://read.qxmd.com/read/34977425/long-term-retinal-imaging-of-a-case-of-suspected-congenital-rubella-infection
#31
JOURNAL ARTICLE
Christopher S Langlo, Alana Trotter, Honey V Reddi, Kala F Schilter, Rebecca C Tyler, Rupa Udani, Maureen Neitz, Joseph Carroll, Thomas B Connor
PURPOSE: Many retinal disorders present with pigmentary retinopathy, most of which are progressive conditions. Here we present over nine years of follow up on a case of stable pigmentary retinopathy that is suspected to stem from a congenital rubella infection. Parafoveal cone photoreceptors were tracked through this period to gain insight into photoreceptor disruption in this pigmentary retinopathy. METHODS: The patient was examined at 8 visits spanning a total of 111 months...
March 2022: American Journal of Ophthalmology Case Reports
https://read.qxmd.com/read/34940782/comparative-natural-history-of-visual-function-from-patients-with-biallelic-variants-in-bbs1-and-bbs10
#32
JOURNAL ARTICLE
Monika K Grudzinska Pechhacker, Samuel G Jacobson, Arlene V Drack, Matteo Di Scipio, Ine Strubbe, Wanda Pfeifer, Jacque L Duncan, Helene Dollfus, Nathalie Goetz, Jean Muller, Andrea L Vincent, Tomas S Aleman, Anupreet Tumber, Caroline Van Cauwenbergh, Elfride De Baere, Emma Bedoukian, Bart P Leroy, Jason T Maynes, Francis L Munier, Erika Tavares, Eman Saleh, Ajoy Vincent, Elise Heon
Purpose: The purpose of this study was to compare the natural history of visual function change in cohorts of patients affected with retinal degeneration due to biallelic variants in Bardet-Biedl syndrome genes: BBS1 and BBS10. Methods: Patients were recruited from nine academic centers from six countries (Belgium, Canada, France, New Zealand, Switzerland, and the United States). Inclusion criteria were: (1) female or male patients with a clinical diagnosis of retinal dystrophy, (2) biallelic disease-causing variants in BBS1 or BBS10, and (3) measures of visual function for at least one visit...
December 1, 2021: Investigative Ophthalmology & Visual Science
https://read.qxmd.com/read/34916689/-generation-and-characterization-of-cyp4v3-gene-knockout-mice
#33
JOURNAL ARTICLE
R X Jia, S W Jiang, L Zhao, L P Yang
OBJECTIVE: Bietti crystalline dystrophy (BCD) is a rare degenerative eye disease caused by mutations in the CYP4V2 gene, and Cyp4v3 is the murine ortholog to CYP4V2 . To better understand the molecular pathogenesis of this disease and to explore the potential treatment we have established a Cyp4v3 knock-out mouse model. METHODS: Cyp4v3 -/- mice were generated by clustered regularly interspaced short palindromic repeats (CRISPR)/Cas9 in embryonic stem cells of C57BL/6J mice...
December 18, 2021: Beijing da Xue Xue Bao. Yi Xue Ban, Journal of Peking University. Health Sciences
https://read.qxmd.com/read/34884517/oscillatory-potentials-in-achromatopsia-as-a-tool-for-understanding-cone-retinal-functions
#34
JOURNAL ARTICLE
Giulia Righetti, Melanie Kempf, Christoph Braun, Ronja Jung, Susanne Kohl, Bernd Wissinger, Eberhart Zrenner, Katarina Stingl, Krunoslav Stingl
Achromatopsia (ACHM) is an inherited autosomal recessive disease lacking cone photoreceptors functions. In this study, we characterize the time-frequency representation of the full-field electroretinogram (ffERG) component oscillatory potentials (OPs), to investigate the connections between photoreceptors and the inner retinal network using ACHM as a model. Time-frequency characterization of OPs was extracted from 52 controls and 41 achromat individuals. The stimulation via ffERG was delivered under dark-adaptation (DA, 3...
November 24, 2021: International Journal of Molecular Sciences
https://read.qxmd.com/read/34462148/-pathognomonic-erg-predicting-the-genetic-diagnosis-cone-dystrophy-with-supernormal-rod-response
#35
JOURNAL ARTICLE
C Jarrett, C-M Dhaenens, C Marks-Delesalle, P Debruyne, S Defoort-Dhellemmes, V Smirnov
No abstract text is available yet for this article.
August 27, 2021: Journal Français D'ophtalmologie
https://read.qxmd.com/read/34343570/characterization-and-allogeneic-transplantation-of-a-novel-transgenic-cone-rich-donor-mouse-line
#36
JOURNAL ARTICLE
Ying V Liu, Derek Teng, Gregory J Konar, Dzhalal Agakishiev, Alexis Biggs-Garcia, Sarah Harris-Bookman, Minda M McNally, Catalina Garzon, Saalini Sastry, Mandeep S Singh
OBJECTIVES: Cone photoreceptor transplantation is a potential treatment for macular diseases. The optimal conditions for cone transplantation are poorly understood, partly because of the scarcity of cones in donor mice. To facilitate allogeneic cone photoreceptor transplantation studies in mice, we aimed to create and characterize a donor mouse model containing a cone-rich retina with a cone-specific enhanced green fluorescent protein (EGFP) reporter. METHODS: We generated OPN1LW-EGFP/NRL-/- mice by crossing NRL-/- and OPN1LW-EGFP mice...
September 2021: Experimental Eye Research
https://read.qxmd.com/read/34259982/compound-heterozygous-mutations-in-znf408-in-a-patient-with-a-late-onset-pigmentary-retinopathy-and-relatively-preserved-central-retina
#37
JOURNAL ARTICLE
Jennifer B Nadelmann, Erin C O'Neil, Dale S Kim, Jane Juusola, Tomas S Aleman
PURPOSE: To describe in detail the phenotype of a patient with compound heterozygous mutations in ZNF408 and an adult-onset pigmentary retinopathy rather than familial exudative vitreoretinopathy as expected with heterozygous mutations in this gene. METHODS: A 70-year-old male presented with a pigmentary retinopathy, which prompted a genetic evaluation that revealed two variants in trans in the ZNF408 gene. He underwent an ophthalmic examination, kinetic fields, electroretinography (ERG), spectral-domain optical coherence tomography (SD-OCT), fundus autofluorescence, wide-angle fluorescein angiography and near-infrared imaging...
July 14, 2021: Documenta Ophthalmologica. Advances in Ophthalmology
https://read.qxmd.com/read/34126082/contribution-of-m-opsin-based-color-vision-to-refractive-development-in-mice
#38
JOURNAL ARTICLE
Shunmei Ji, Xiuyu Mao, Yifan Zhang, Lin Ye, Jinhui Dai
M-opsin, encoded by opn1mw gene, is involved in green-light perception of mice. The role of M-opsin in emmetropization of mice remains uncertain. To answer the above question, 4-week-old wild-type (WT) mice were exposed to white light or green light (460-600 nm, a peak at 510 nm) for 12 weeks. Refractive development was estimated biweekly. After treatment, retinal function was assessed using electroretinogram (ERG). Dopamine (DA) in the retina was evaluated by high-performance liquid chromatography, M-opsin and S-opsin protein levels by Western blot and ELISA, and mRNA expressions of opn1mw and opn1sw by RT-PCR...
August 2021: Experimental Eye Research
https://read.qxmd.com/read/34122558/long-term-effects-of-adjuvant-intravitreal-treatment-with-autologous-bone-marrow-derived-lineage-negative-cells-in-retinitis-pigmentosa
#39
JOURNAL ARTICLE
Marta P Wiącek, Wojciech Gosławski, Aleksandra Grabowicz, Anna Sobuś, Miłosz P Kawa, Bartłomiej Baumert, Edyta Paczkowska, Sławomir Milczarek, Bogumiła Osękowska, Krzysztof Safranow, Alicja Zawiślak, Wojciech Lubiński, Bogusław Machaliński, Anna Machalińska
BACKGROUND: Autologous bone marrow-derived lineage-negative (Lin-) cells present antiapoptotic and neuroprotective activity. The aim of the study was to evaluate the safety and efficacy of novel autologous Lin- cell therapy during a 12-month follow-up period. METHODS: Intravitreal injection of Lin- cells in 30 eyes with retinitis pigmentosa (RP) was performed. The fellow eyes (FEs) were considered control eyes. Functional and morphological eye examinations were performed before and 1, 3, 6, 9, and 12 months after the injection...
2021: Stem Cells International
https://read.qxmd.com/read/34063002/molecular-cellular-and-functional-changes-in-the-retinas-of-young-adult-mice-lacking-the-voltage-gated-k-channel-subunits-kv8-2-and-k2-1
#40
JOURNAL ARTICLE
Xiaotian Jiang, Rabab Rashwan, Valentina Voigt, Jeanne Nerbonne, David M Hunt, Livia S Carvalho
Cone Dystrophy with Supernormal Rod Response (CDSRR) is a rare autosomal recessive disorder leading to severe visual impairment in humans, but little is known about its unique pathophysiology. We have previously shown that CDSRR is caused by mutations in the KCNV2 (Potassium Voltage-Gated Channel Modifier Subfamily V Member 2) gene encoding the Kv8.2 subunit, a modulatory subunit of voltage-gated potassium (Kv) channels. In a recent study, we validated a novel mouse model of Kv8.2 deficiency at a late stage of the disease and showed that it replicates the human electroretinogram (ERG) phenotype...
May 5, 2021: International Journal of Molecular Sciences
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