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https://www.readbyqxmd.com/read/29131863/long-term-retinal-cone-rescue-using-a-capsid-mutant-aav8-vector-in-a-mouse-model-of-cnga3-achromatopsia
#1
Xufeng Dai, Ying He, Hua Zhang, Yangyang Zhang, Yan Liu, Muran Wang, Hao Chen, Ji-Jing Pang
Adeno-associated virus (AAV) vectors are important gene delivery tools for the treatment of many recessively inherited retinal diseases. For example, a wild-type (WT) AAV5 vector can deliver a full-length Cnga3 (cyclic nucleotide-gated channel alpha-3) cDNA to target cells of the cone photoreceptor function loss 5 (cpfl5) mouse, a spontaneous animal model of achromatopsia with a Cnga3 mutation. Gene therapy restores cone-mediated function and blocks cone degeneration in the mice. However, since transgene expression delivered by an AAV vector shows relatively short-term effectiveness, this cannot be regarded as a very successful therapy...
2017: PloS One
https://www.readbyqxmd.com/read/28993665/variabilities-in-retinal-function-and-structure-in-a-canine-model-of-cone-rod-dystrophy-associated-with-rpgrip1-support-multigenic-etiology
#2
Rueben G Das, Felipe Pompeo Marinho, Simone Iwabe, Evelyn Santana, Kendra Sierra McDaid, Gustavo D Aguirre, Keiko Miyadera
Defects in the cilia gene RPGRIP1 cause Leber congenital amaurosis and cone-rod dystrophy in humans. A form of canine cone-rod dystrophy (cord1) was originally associated with a homozygous insertion in RPGRIP1 (RPGRIP1 (ins/ins)) as the primary disease locus while a homozygous deletion in MAP9 (MAP9 (del/del)) was later identified as a modifier associated with the early onset form. However, we find further variability in cone electroretinograms (ERGs) ranging from normal to absent in an extended RPGRIP1 (ins/ins) canine colony, irrespective of the MAP9 genotype...
October 9, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28975461/measurement-of-dark-adaptometry-during-iscev-standard-flash-electroretinography
#3
Jeff Rabin, Brooke Houser, Carolyn Talbert, Rue Patel
PURPOSE: Dark adaptometry (DA) is a sensitive test for diagnosis of retinal disease. Patients requiring flash electroretinograms (ERGs) benefit from DA for proper diagnosis. Our purpose was to develop a DA test to be administered during the 20-min dark adaptation period of the flash ERG ( www.iscev.org ) using alternating red and blue stimuli to bias responses in favor of cones (red) and rods (blue). METHODS: An ERG Ganzfeld was used to measure DA in 21 normal subjects and 21 patients with retinal disease...
December 2017: Documenta Ophthalmologica. Advances in Ophthalmology
https://www.readbyqxmd.com/read/28929832/cngb3-mutations-cause-severe-rod-dysfunction
#4
J Maguire, M McKibbin, K Khan, S Kohl, M Ali, D McKeefry
PURPOSE: Congenital achromatopsia or rod monochromatism is a rare autosomal recessive condition defined by a severe loss of cone photoreceptor function in which rods purportedly retain normal or near-to-normal function. This report describes the results of electroretinography in two siblings with CNGB3-associated achromatopsia. METHODS: Full field light- and dark-adapted electroretinograms (ERGs) were recorded using standard protocols detailed by the International Society for Clinical Electrophysiology of Vision (ISCEV)...
September 20, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28798898/dark-adapted-chromatic-perimetry-for-measuring-rod-visual-fields-in-patients-with-retinitis-pigmentosa
#5
Lea D Bennett, Martin Klein, Kirsten G Locke, Kelly Kiser, David G Birch
PURPOSE: Although rod photoreceptors are initially affected in retinitis pigmentosa (RP), the full-field of rod vision is not routinely characterized due to the unavailability of commercial devices detecting rod sensitivity. The purpose of this study was to quantify rod-mediated vision in the peripheral field from patients with RP using a new commercially available perimeter. METHODS: Participants had one eye dilated and dark-adapted for 45 minutes. A dark-adapted chromatic (DAC) perimeter tested 80 loci 144° horizontally and 72° vertically with cyan stimuli...
July 2017: Translational Vision Science & Technology
https://www.readbyqxmd.com/read/28662245/reduction-of-rod-and-cone-function-in-6-5-year-old-children-born-extremely-preterm
#6
COMPARATIVE STUDY
Anna E C Molnar, Sten O Andréasson, Eva K B Larsson, Hanna M Åkerblom, Gerd E Holmström
Importance: The function of rods and cones in children born extremely preterm has not yet been fully investigated. Objective: To compare retinal function via full-field electroretinographic (ffERG) recordings in 6.5-year-old children born extremely preterm with children born at term. Design, Setting, and Participants: A subcohort study was conducted from July 1, 2010, to January 15, 2014, of the national Extremely Preterm Infants in Sweden Study, including preterm children (<27 weeks' gestational age) and children born at term, at 6...
August 1, 2017: JAMA Ophthalmology
https://www.readbyqxmd.com/read/28593392/multimodal-imaging-and-functional-correlations-identify-unusual-cases-of-macular-retinal-pigment-epithelium-hypopigmentation-occurring-without-functional-loss
#7
E Boulanger-Scemama, J Akesbi, S Tick, S Mohand-Said, J-A Sahel, I Audo
PURPOSE: Patients with unusual macular retinal pigment epithelium (RPE) hypopigmentation are described and analyzed using retinal multimodal imaging. METHODS: We report three cases of patients with unilateral (2) or bilateral (1) macular lesions discovered incidentally on fundoscopy. A comprehensive ophthalmic examination including visual acuity, fundoscopy, spectral-domain optical coherence tomography (SD-OCT), short-wavelength light and near-infrared autofluorescence, fluorescein angiography, microperimetry, multifocal electroretinogram, adaptive optics (AO), and OCT-angiography (OCT-A) has been performed...
August 2017: Documenta Ophthalmologica. Advances in Ophthalmology
https://www.readbyqxmd.com/read/28516000/role-of-a-dual-splicing-and-amino-acid-code-in-myopia-cone-dysfunction-and-cone-dystrophy-associated-with-l-m-opsin-interchange-mutations
#8
Scott H Greenwald, James A Kuchenbecker, Jessica S Rowlan, Jay Neitz, Maureen Neitz
PURPOSE: Human long (L) and middle (M) wavelength cone opsin genes are highly variable due to intermixing. Two L/M cone opsin interchange mutants, designated LIAVA and LVAVA, are associated with clinical diagnoses, including red-green color vision deficiency, blue cone monochromacy, cone degeneration, myopia, and Bornholm Eye Disease. Because the protein and splicing codes are carried by the same nucleotides, intermixing L and M genes can cause disease by affecting protein structure and splicing...
May 2017: Translational Vision Science & Technology
https://www.readbyqxmd.com/read/28478700/safety-and-efficacy-evaluation-of-raav2tyf-pr1-7-hcnga3-vector-delivered-by-subretinal-injection-in-cnga3-mutant-achromatopsia-sheep
#9
Elisha Gootwine, Ron Ofri, Eyal Banin, Alexey Obolensky, Edward Averbukh, Raaya Ezra-Elia, Maya Ross, Hen Honig, Alexander Rosov, Esther Yamin, Guo-Jie Ye, David R Knop, Paulette M Robinson, Jeffrey D Chulay, Mark S Shearman
Applied Genetic Technologies Corporation (AGTC) is developing a recombinant adeno-associated virus (rAAV) vector expressing the human CNGA3 gene designated AGTC-402 (rAAV2tYF-PR1.7-hCNGA3) for the treatment of achromatopsia, an inherited retinal disorder characterized by markedly reduced visual acuity, extreme light sensitivity, and absence of color discrimination. The results are herein reported of a study evaluating safety and efficacy of AGTC-402 in CNGA3-deficient sheep. Thirteen day-blind sheep divided into three groups of four or five animals each received a subretinal injection of an AAV vector expressing a CNGA3 gene in a volume of 500 μL in the right eye...
June 2017: Human Gene Therapy. Clinical Development
https://www.readbyqxmd.com/read/28384671/acute-zonal-cone-photoreceptor-outer-segment-loss
#10
Tomas S Aleman, Harpal S Sandhu, Leona W Serrano, Anastasia Traband, Marisa K Lau, Grazyna Adamus, Robert A Avery
Importance: The diagnostic path presented narrows down the cause of acute vision loss to the cone photoreceptor outer segment and will refocus the search for the cause of similar currently idiopathic conditions. Objective: To describe the structural and functional associations found in a patient with acute zonal occult photoreceptor loss. Design, Setting, and Participants: A case report of an adolescent boy with acute visual field loss despite a normal fundus examination performed at a university teaching hospital...
May 1, 2017: JAMA Ophthalmology
https://www.readbyqxmd.com/read/28379567/retinal-photoreceptor-functions-are-compromised-in-patients-with-resistance-to-thyroid-hormone-syndrome-rth%C3%AE
#11
MULTICENTER STUDY
Irene Campi, Gabriella Cammarata, Stefania Bianchi Marzoli, Paolo Beck-Peccoz, Diletta Santarsiero, Davide Dazzi, Alessandra Bottari de Castello, Elena Giuliana Taroni, Francesco Viola, Caterina Mian, Sara Watutantrige-Fernando, Carla Pelusi, Marina Muzza, Maria Antonia Maffini, Luca Persani
Context: In animal models, disruption of thyroid hormone (TH) receptor-β (TRβ) reduces the long/medium wavelength (L/M) and increases the short-wavelength (S) cones. Retinal photoreceptor (RP) functions are unknown in patients with resistance to TH syndrome (RTHβ) with dominant-negative TRβ mutations. Objective: To investigate RP functions in RTHβ. Design, Setting, and Participants: Case-control study involving 27 RTHβ patients and 31 age/sex-matched controls, conducted in two tertiary referral centers in Italy...
July 1, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28088625/absence-of-dj-1-causes-age-related-retinal-abnormalities-in-association-with-increased-oxidative-stress
#12
Vera L Bonilha, Brent A Bell, Mary E Rayborn, Ivy S Samuels, Anna King, Joe G Hollyfield, Chengsong Xie, Huaibin Cai
Oxidative stress alters physiological function in most biological tissues and can lead to cell death. In the retina, oxidative stress initiates a cascade of events leading to focal loss of RPE and photoreceptors, which is thought to be a major contributing factor to geographic atrophy. Despite these implications, the molecular regulation of RPE oxidative stress under normal and pathological conditions remains largely unknown. A better understanding of the mechanisms involved in regulating RPE and photoreceptors oxidative stress response is greatly needed...
March 2017: Free Radical Biology & Medicine
https://www.readbyqxmd.com/read/27984836/-do-we-still-need-electrophysiology-in-ophthalmology
#13
REVIEW
H Tegetmeyer
Electrophysiological methods in clinical ophthalmology include the full-field electroretinogram (ERG) for assessment of outer and middle retinal layers, pattern ERG (PERG) for assessment of ganglion cell function, the electrooculogram (EOG) for assessment of retinal pigment epithelium function, as well as visual evoked potentials (VEP) for assessment of the visual pathway, including the optic nerve and visual cortex. Multifocal recording techniques for ERG and VEP are used for tests within selected areas of the visual field...
December 2016: Klinische Monatsblätter Für Augenheilkunde
https://www.readbyqxmd.com/read/27843226/validity-and-cost-effectiveness-of-cone-adaptation-test-as-a-screening-tool-to-detect-retinitis-pigmentosa
#14
Rahul Deshpande, Prajakta Save, Madan Deshpande, Mahadev Shegunashi, Marium Chougule, Rajiv Khandekar
BACKGROUND: The cone adaptation test is to detect retinitis pigmentosa (RP) cases confirmed by electroretinogram (ERG). We present the validity and cost-effectiveness of cone adaptation test as a screening tool for detecting RP. METHODS: This cross-sectional study was conducted between November 2013 and December 2013. All RP cases diagnosed by ophthalmologists of H. V. Desai Eye Hospital in the last 5 years were participated in this study. The cone adaptation test was done in photopic and scotopic illumination...
September 2016: Oman Journal of Ophthalmology
https://www.readbyqxmd.com/read/27732723/homozygosity-for-a-recessive-loss-of-function-mutation-of-the-nrl-gene-is-associated-with-a-variant-of-enhanced-s-cone-syndrome
#15
Hadas Newman, Sergiu C Blumen, Itzhak Braverman, Rana Hanna, Beatrice Tiosano, Ido Perlman, Tamar Ben-Yosef
Purpose: To investigate the genetic basis for severe visual complaints by Bukharan Jewish patients with oculopharyngeal muscular dystrophy (OPMD). Methods: Polymerase chain reaction amplification and direct sequencing were used to test for NRL, PABPN1, and NR2E3 mutations. Complete ophthalmic examination included best-corrected visual acuity, biomicroscopic examination, optical coherence tomography, and fundus autofluorescence. Detailed electroretinography (ERG) testing was conducted including expanded International Society for Clinical Electrophysiology of Vision protocol for light-adapted and dark-adapted conditions, measurements of S-cone function, and ON-OFF light-adapted ERG...
October 1, 2016: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/27607415/quantitative-and-topographical-analysis-of-the-losses-of-cone-photoreceptors-and-retinal-ganglion-cells-under-taurine-depletion
#16
Wahiba Hadj-Saïd, Nicolas Froger, Ivana Ivkovic, Manuel Jiménez-López, Élisabeth Dubus, Julie Dégardin-Chicaud, Manuel Simonutti, César Quénol, Nathalie Neveux, María Paz Villegas-Pérez, Marta Agudo-Barriuso, Manuel Vidal-Sanz, Jose-Alain Sahel, Serge Picaud, Diego García-Ayuso
PURPOSE: Taurine depletion is known to induce photoreceptor degeneration and was recently found to also trigger retinal ganglion cell (RGC) loss similar to the retinal toxicity of vigabatrin. Our objective was to study the topographical loss of RGCs and cone photoreceptors, with a distinction between the two cone types (S- and L- cones) in an animal model of induced taurine depletion. METHODS: We used the taurine transporter (Tau-T) inhibitor, guanidoethane sulfonate (GES), to induce taurine depletion at a concentration of 1% in the drinking water...
September 1, 2016: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/27471166/scotopic-electroretinography-in-fishing-cat-prionailurus-viverrinus-and-leopard-cat-prionailurus-bengalensis
#17
Metita Sussadee, Narathip Vorawattanatham, Anuchai Pinyopummin, Janjira Phavaphutanon, Aree Thayananuphat
OBJECTIVE: To establish baseline normal scotopic electroretinograpic (ERG) parameters for two wild cat species: fishing cats (FC) and leopard cats (LC). ANIMAL STUDIED: Twelve normal, FC and eight LC kept in the Chiang Mai Night Safari Zoo, Thailand. The mean ages of FC and LC were 7.08 and 5.00 years, respectively. PROCEDURE: All animals were studied using a standard scotopic protocol of a portable, handheld, multi-species electroretinography (HMsERG)...
May 2017: Veterinary Ophthalmology
https://www.readbyqxmd.com/read/27445454/evaluation-of-cone-function-by-a-handheld-non-mydriatic-flicker-electroretinogram-device
#18
Natsuko Nakamura, Kaoru Fujinami, Yoshinobu Mizuno, Toru Noda, Kazushige Tsunoda
PURPOSE: Full-field electroretinograms (ERGs) are used to evaluate retinal function in patients with various types of hereditary and acquired retinal diseases. However, ERG recordings require relatively invasive procedures, including pupillary dilation and the use of contact lens electrodes. Thus, it would be helpful to have a simpler and noninvasive screening method. The purpose of this study was to determine whether a new, handheld, portable ERG device, RETeval™, can be used to screen patients for cone dysfunction...
2016: Clinical Ophthalmology
https://www.readbyqxmd.com/read/27419834/a-novel-mutation-and-variable-phenotypic-expression-in-a-large-consanguineous-pedigree-with-jalili-syndrome
#19
S Rahimi-Aliabadi, N Daftarian, H Ahmadieh, B Emamalizadeh, J Jamshidi, A Tafakhori, H Ghaedi, R Noroozi, S Taghavi, A Ahmadifard, E Alehabib, M Andarva, P Shokraeian, M Atakhorrami, H Darvish
PurposeJalili syndrome is an autosomal recessive disorder characterized by simultaneous appearance of cone-rod dystrophy (CRD) and amelogenesis imperfecta (AI). Mutations in CNNM4 gene have been identified as the underlying cause of the syndrome. In this study, we investigated a large affected family to identify the causative mutation.Patients and MethodsA seven-generation family with 24 members affected with Jalili syndrome were enrolled in the study. Comprehensive ophthalmologic and dental examinations were performed on them...
November 2016: Eye
https://www.readbyqxmd.com/read/27302599/effect-of-prolonged-photoperiod-on-ocular-tissues-of-domestic-turkeys
#20
Marina L Leis, Mary-Magdalene U Dodd, Gregory Starrak, Catherine J Vermette, Susantha Gomis, Bianca S Bauer, Lynne S Sandmeyer, Karen Schwean-Lardner, Henry L Classen, Bruce H Grahn
OBJECTIVE: The objective of this study is to investigate the structural and functional ocular changes that develop in turkeys exposed to a photoperiod of 23 h of light (23L) compared with a photoperiod of 14 h of light (14L). PROCEDURES: Ten-day-old Nicholas heavy strain poults were exposed to either a 14L or 23L photoperiod. Between 16 and 18 weeks of age, equal numbers of turkeys per treatment group underwent ophthalmic examination (biomicroscopy, indirect ophthalmoscopy) (n = 14), refractometry (n = 20), keratometry (n = 20), tonometry (n = 20), and full-field electroretinography (ERG) (n = 14)...
May 2017: Veterinary Ophthalmology
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