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[PMID]: 29522070
[Au] Autor:Miraldi Utz V; Pfeifer W; Longmuir SQ; Olson RJ; Wang K; Drack AV
[Ad] Address:Abrahamson Pediatric Eye Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.
[Ti] Title:Presentation of TRPM1-Associated Congenital Stationary Night Blindness in Children.
[So] Source:JAMA Ophthalmol;, 2018 Mar 08.
[Is] ISSN:2168-6173
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Importance: Congenital stationary night blindness (CSNB) implies a stable condition, with the major symptom being nyctalopia present at birth. Pediatric clinical presentation and the course of different genetic subtypes of CSNB have not, to our knowledge, been well described in the era of molecular genetic diagnosis. Objective: To describe the presentation and longitudinal clinical characteristics of pediatric patients with molecularly confirmed TRPM1-associated complete CSNB (cCSNB). Design, Setting, Participants: This study was conducted at the University of Iowa from January 1, 1990, to July 1, 2015, and was a retrospective, longitudinal case series of 7 children (5 [71.4%] female) with TRPM1-associated cCSNB followed up for a mean (SD) of 11.1 (2.8) years. Main Outcomes and Measures: History, ophthalmologic examination findings, full-field electroretinogram (ffERG) results, full-field stimulus threshold testing results, Goldmann visual field results, optical coherence tomography results, and molecular genetic results were evaluated. Presenting symptoms and signs, the correlation of refractive error with electroretinography, and clinical evolution were analyzed. Results: Seven patients (5 [71.4%] female) presented early in childhood with strabismus (n = 6 [86%]), myopia (n = 5 [71%]), and/or nystagmus (n = 3 [43%]). The mean (SD) age at presentation was 8 (4) months and for receiving a diagnosis by ffERG was 7.3 years, with molecular diagnosis at 9.7 years. The mean (SD) length of follow-up was 11 (2.8) years. The best-corrected visual acuity at the most recent visit averaged 20/30 in the better-seeing eye (range, 20/20-20/60). The mean (SD) initial refraction was -2.80 (4.42) diopters (D) and the mean refraction at the most recent visit was -8.75 (3.53) D (range, -4.00 to -13.75 D), with the greatest rate of myopic shift before age 5 years. Full-field electroretinogram results were electronegative, consistent with cCSNB, without a significant change in amplitude over time. No patient or parent noted night blindness at presentation; however, subjective nyctalopia was eventually reported in 5 of 7 patients (71%). The full-field stimulus threshold testing results were moderately subnormal (-29.7 [3.8] dB; normal -59.8 [4.0] dB). Goldmann visual field results were significant for full I-4e, but constricted I-2e isopter. Eight different mutations or rare variants in TRPM1 predicted to be pathogenic were detected, with 3 novel variants. Conclusions and Relevance: Children with TRPM1-associated cCSNB presented before school age with progressive myopia as well as strabismus and nystagmus (but not nyctalopia), with stable, electronegative ffERG results, mildly subnormal full-field stimulus threshold testing results, and a constricted I2e isopter on perimetry. These findings suggest that ffERG and cCSNB genetic testing should be considered for children who present with early-onset myopia, especially in the presence of strabismus and/or nystagmus, and that TRPM1-associated cCSNB is a channelopathy that may present without complaints of night blindness in childhood.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180309
[Lr] Last revision date:180309
[St] Status:Publisher
[do] DOI:10.1001/jamaophthalmol.2018.0185

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[PMID]: 29522064
[Au] Autor:Koenekoop RK
[Ad] Address:McGill University, Westmount, Quebec, Canada.
[Ti] Title:Revisiting Congenital Stationary Night Blindness in the Molecular Era.
[So] Source:JAMA Ophthalmol;, 2018 Mar 08.
[Is] ISSN:2168-6173
[Cp] Country of publication:United States
[La] Language:eng
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180309
[Lr] Last revision date:180309
[St] Status:Publisher
[do] DOI:10.1001/jamaophthalmol.2018.0193

  3 / 2131 MEDLINE  
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[PMID]: 29198644
[Au] Autor:Fuente García C; González-López JJ; Muñoz-Negrete FJ; Rebolleda G
[Ad] Address:Servicio de Oftalmología, Hospital Universitario Ramón y Cajal, Instituto Ramón y Cajal de Investigaciones Sanitarias (IRYCIS), Madrid, España.
[Ti] Title:La utilidad diagnóstica del electrorretinograma negativo. The diagnostic usefulness of the negative electroretinogram.
[So] Source:Arch Soc Esp Oftalmol;93(3):126-135, 2018 Mar.
[Is] ISSN:1989-7286
[Cp] Country of publication:Spain
[La] Language:eng; spa
[Ab] Abstract: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. On the other hand, it can also be found unilaterally (or asymmetrically) in acquired pathologies, such as some types of immuno-mediated retinitis (Birdshot retinochoroiditis), autoimmune retinopathies, cancer/melanoma associated retinopathy, or retinal toxicity. The objective of this review is to summarise the characteristics of the pathologies in which this finding can be observed, in order to highlight its usefulness in the differential diagnosis of retinal conditions.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 180227
[Lr] Last revision date:180227
[St] Status:In-Process

  4 / 2131 MEDLINE  
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[PMID]: 29247830
[Au] Autor:Felip E; Barlesi F; Besse B; Chu Q; Gandhi L; Kim SW; Carcereny E; Sequist LV; Brunsvig P; Chouaid C; Smit EF; Groen HJM; Kim DW; Park K; Avsar E; Szpakowski S; Akimov M; Garon EB
[Ad] Address:Vall d'Hebron University Hospital and Vall d'Hebron Institute of Oncology, Barcelona, Spain. Electronic address: efelip@vhio.net.
[Ti] Title:Phase 2 Study of the HSP-90 Inhibitor AUY922 in Previously Treated and Molecularly Defined Patients with Advanced Non-Small Cell Lung Cancer.
[So] Source:J Thorac Oncol;, 2017 Dec 13.
[Is] ISSN:1556-1380
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:INTRODUCTION: In this phase 2 study, we evaluated the activity of AUY922 in pretreated patients with stage IV NSCLC. METHODS: Patients with advanced NSCLC were divided into molecularly defined strata based on mutations in the EGFR gene, the ALK receptor tyrosine kinase gene (ALK), the KRAS gene, or the wild type of all three. All patients must have received more than two prior lines of therapy, except for those in a fifth stratum for a less pretreated EGFR cohort (EGFR<2). In the EGFR-mutant and ALK-rearranged strata, prior platinum therapy was not required. Patients with EGFR mutation must have received an EGFR tyrosine kinase inhibitor unless they had de novo resistance (e.g., T790M or exon 20 insertions). Eligible patients received weekly intravenous AUY922, 70 mg/m . The primary objective was to estimate efficacy (complete or partial response, or in the absence of complete or partial response, stable disease) at 18 weeks, by the Response Criteria in Solid Tumors. RESULTS: A total of 153 patients from 21 global centers were enrolled from October 2010 to November 2014. The investigator-assessed overall response rate and stable disease rate at 18 weeks were 31.8% and 9.1% in the ALK-rearranged stratum, 17.1% and 8.6% in EGFR-mutant stratum, 9.7% and 22.6% in the EGFR<2 stratum, 0% and 7.1% in KRAS-mutant stratum, and 8.8% and 8.8% in wild-type stratum. Biomarker data showed activity of AUY922 in EGFR-mutant patients with exon 19 deletion, T790M mutation, and exon 20 insertion. The most common (≥40%) all-causality adverse events were diarrhea, nausea, and decreased appetite. Visual-related disorders were reported in 79.7% of patients (most were grade 1/2). Thirty-five patients (22.9%) reported night blindness. CONCLUSION: AUY922 is active in patients with NSCLC, particularly among patients with ALK rearrangements and EGFR mutations.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 180217
[Lr] Last revision date:180217
[St] Status:Publisher

  5 / 2131 MEDLINE  
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[PMID]: 28451987
[Au] Autor:Nair AA; Marmor MF
[Ad] Address:Department of Ophthalmology and Byers Eye Institute, Stanford University School of Medicine, 2452 Watson Court, Palo Alto, 94303-3216, CA, USA.
[Ti] Title:ERG and other discriminators between advanced hydroxychloroquine retinopathy and retinitis pigmentosa.
[So] Source:Doc Ophthalmol;134(3):175-183, 2017 06.
[Is] ISSN:1573-2622
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:PURPOSE: To study whether the ERG and other clinical findings help to distinguish between advanced hydroxychloroquine (HCQ) retinopathy and pericentral or diffuse retinitis pigmentosa (RP) with similar fundus appearance. METHODS: We conducted a retrospective analysis of patients with advanced HCQ retinopathy (n = 11), pericentral RP (n = 8) and diffuse RP (n = 8). Pericentral RP was defined as having limited fundus damage and relatively normal flicker ERG time-to-peak. Diffuse RP had typical loss of the rod ERG and flicker timing delay. All patients showed reduced amplitude of the ISCEV responses in the full-field electroretinogram (ERG). Aspects of history, visual field results, fundus appearance, fundus autofluorescence and ocular coherence tomography were also compared. RESULTS: Relative to pericentral RP, patients with HCQ toxicity showed delayed flicker ERG time-to-peak and lower ERG amplitudes, particularly combined rod-cone responses. Relative to diffuse RP, most HCQ toxicity patients had some preserved rod ERG response, and there was no obvious predilection for rod over cone damage. In addition, patients with HCQ toxicity usually lacked markers of long-standing degeneration such as bone spicule figures or severe loss of peripheral field. History of familial disease and long-standing night blindness were specific to RP. CONCLUSIONS: While the early signs of HCQ damage are typically regional in the posterior pole, advanced disease is characteristically diffuse (unlike pericentral RP). This is appropriate for a systemic toxin, as is the finding that rods and cones were both affected in the ERG to a similar degree (unlike genetic rod-cone dystrophies). For patients with severe HCQ exposure and some of our discriminatory findings, and no family history or prior night blindness, HCQ toxicity is a sufficient diagnosis without invoking a second rare disease (Occam's razor).
[Mh] MeSH terms primary: Electroretinography
Enzyme Inhibitors/adverse effects
Hydroxychloroquine/adverse effects
Retinal Diseases/diagnosis
[Mh] MeSH terms secundary: Adult
Aged
Aged, 80 and over
Diagnosis, Differential
Female
Humans
Male
Middle Aged
Photoreceptor Cells, Vertebrate/physiology
Retinitis Pigmentosa/diagnosis
Retrospective Studies
Visual Fields
[Pt] Publication type:JOURNAL ARTICLE
[Nm] Name of substance:0 (Enzyme Inhibitors); 4QWG6N8QKH (Hydroxychloroquine)
[Em] Entry month:1706
[Cu] Class update date: 180215
[Lr] Last revision date:180215
[Js] Journal subset:IM
[Da] Date of entry for processing:170429
[St] Status:MEDLINE
[do] DOI:10.1007/s10633-017-9588-8

  6 / 2131 MEDLINE  
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[PMID]: 29390235
[Au] Autor:Zeitz C; Friedburg C; Preising MN; Lorenz B
[Ad] Address:Sorbonne Universités, UPMC Univ Paris 06, INSERM U968, CNRS UMR 7210, Institut de la Vision, 17 rue Moreau, 75012 Paris, France.
[Ti] Title:Überblick über die kongenitale stationäre Nachtblindheit mit überwiegend normalem Fundus. [Overview of Congenital Stationary Night Blindness with Predominantly Normal Fundus Appearance].
[So] Source:Klin Monbl Augenheilkd;, 2018 Feb 01.
[Is] ISSN:1439-3999
[Cp] Country of publication:Germany
[La] Language:ger
[Ab] Abstract:Congenital stationary night blindness (CSNB) is a clinically and genetically heterogeneous group of non-progressive retinal disorder with largely normal fundus appearance. The mode of inheritance can be autosomal dominant (adCSNB), autosomal recessive (arCSNB) or X-chromosomal (XLCSNB). Additional ocular signs can be myopia, hyperopia, strabismus, nystagmus and reduced visual acuity. The Riggs and Schubert-Bornschein form of CSNB can be discriminated by electroretinography. While the Riggs form represents a dysfunction of the rods, a signal transmission defect from photoreceptors to bipolar cell is described in patients with the more frequently occurring Schubert-Bornschein form. The Schubert-Bornschein form can be further divided into incomplete (icCSNB) and complete (cCSNB) showing different electroretinograms (ERGs). While patients with cCSNB show a dysfunction of the ON-signaling pathway, patients with icCSNB show a dysfunction of the ON- and OFF-signaling pathways, affecting visual acuity as well. Using classical linkage, candidate gene analyses and more recent next-generation sequencing approaches, to date, mutations in 13 different genes have been associated with this disease. In vitro and in vivo models showed a correlation of the phenotype of patients with the expression, protein localization and function of the respective molecules: genes, mutated in patients with the Riggs form of CSNB have an important role in the rod phototransduction cascade. Genes mutated in patients with icCSNB, code for proteins important for glutamate neurotransmitter release at the synaptic cleft of the photoreceptors. Genes mutated in patients with cCSNB, code for proteins important for glutamate uptake and further signal transmission to the ON-bipolar cells. Preliminary in vivo studies showed that CSNB may be cured by gene therapy. These studies concerning CSNB are important for the precise diagnosis of patients with this disease, but are also helpful in deciphering key molecules essential for signal transmission from photoreceptors to bipolar cells. So far, it is a poorly understood field.
[Pt] Publication type:ENGLISH ABSTRACT; JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180201
[Lr] Last revision date:180201
[St] Status:Publisher
[do] DOI:10.1055/s-0043-123072

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[PMID]: 29341952
[Au] Autor:Dhalani JM; Nariya PB
[Ad] Address:1Department of Chemistry, RK University, Rajkot, India.
[Ti] Title:A Pharmacological Review: Leptadenia reticulata (Wight & Arn.); Jivanti: the Real Life Giving Plant.
[So] Source:Folia Med (Plovdiv);59(4):405-412, 2017 Dec 20.
[Is] ISSN:0204-8043
[Cp] Country of publication:Germany
[La] Language:eng
[Ab] Abstract:The present review reveals a comprehensive description of various pharmacological studies carried out on Leptadenia reticulata, a source of several active compounds, i.e. Leptadenia reticulata plant belonging to family Asclepiadaceae, it is also known as 'Jivanti', used for the treatment of various ailments in human civilization as well as used in folk medicine as a remedy in various reported herbal formulations. The plant has been found to exhibit diverse pharmacological activities like antibacterial activity, anticancer activity, lactogenic eff ect, antioxidant activity, anti-implantation activity, anti-asthmatic activity, modulating eff ect, activity of silver nano particles, hepatoprotective activity, antifungal activity, antidiabetic activity and anti-infl ammatory activity. Traditionally, the plant promotes fi tness and vigor, the tone of voice, cures eye diseases, fever, and night blindness, cough, maintain pregnancy and gangrene. In this review, we give the recent scientifi c update on this plant with therapeutic potential and discuss the methods of carrying out studies. The present review draws the attention of researchers towards the potential therapeutic activity of Leptadenia reticulata for their active constitute.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180117
[Lr] Last revision date:180117
[St] Status:In-Data-Review

  8 / 2131 MEDLINE  
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[PMID]: 29179637
[Au] Autor:Waldner DM; Giraldo Sierra NC; Bonfield S; Nguyen L; Dimopoulos IS; Sauvé Y; Stell WK; Bech-Hansen NT
[Ad] Address:a Department of Neuroscience , Cumming School of Medicine, University of Calgary , Calgary , Alberta , Canada.
[Ti] Title:Cone dystrophy and ectopic synaptogenesis in a Cacna1f loss of function model of congenital stationary night blindness (CSNB2A).
[So] Source:Channels (Austin);12(1):17-33, 2018 Jan 01.
[Is] ISSN:1933-6969
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract: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 α subunit of a L-type voltage-gated calcium channel, Ca 1.4. 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. Several reports have also noted cone-specific disruptions, including axonal abnormalities, dystrophy, and cell death. We have explored further the involvement of cones in our 'G305X' mouse model of CSNB2A, which has a premature truncation, loss-of-function mutation in Cacna1f. We show that the expression of genes for several phototransduction-related cone markers is down-regulated, while that of several cellular stress- and damage-related markers is up-regulated; and that cone photoreceptor structure and photopic visual function - measured by immunohistochemistry, optokinetic response and electroretinography - deteriorate progressively with age. We also find that dystrophic cone axons establish synapse-like contacts with rod bipolar cell dendrites, which they normally do not contact in wild-type retinas - ectopically, among rod cell bodies in the outer nuclear layer. These data support a role for Ca 1.4 in cone synaptic development, cell viability, and synaptic transmission of cone-dependent visual signals. Although our novel finding of cone-to-rod-bipolar cell contacts in this mouse model of a retinal channelopathy may challenge current views of the role of Ca 1.4 in photopic vision, it also suggests a potential new target for restorative therapy.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1711
[Cu] Class update date: 180117
[Lr] Last revision date:180117
[St] Status:In-Data-Review
[do] DOI:10.1080/19336950.2017.1401688

  9 / 2131 MEDLINE  
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[PMID]: 29203653
[Au] Autor:Lu Z; O'Dell D; Srinivasan B; Rey E; Wang R; Vemulapati S; Mehta S; Erickson D
[Ad] Address:Sibley School of Mechanical and Aerospace Engineering, Cornell University, Ithaca, NY 14853.
[Ti] Title:Rapid diagnostic testing platform for iron and vitamin A deficiency.
[So] Source:Proc Natl Acad Sci U S A;114(51):13513-13518, 2017 Dec 19.
[Is] ISSN:1091-6490
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Micronutrient deficiencies such as those of vitamin A and iron affect a third of the world's population with consequences such as night blindness, higher child mortality, anemia, poor pregnancy outcomes, and reduced work capacity. Many efforts to prevent or treat these deficiencies are hampered by the lack of adequate, accessible, and affordable diagnostic methods that can enable better targeting of interventions. In this work, we demonstrate a rapid diagnostic test and mobile enabled platform for simultaneously quantifying iron (ferritin), vitamin A (retinol-binding protein), and inflammation (C-reactive protein) status. Our approach, enabled by combining multiple florescent markers and immunoassay approaches on a single test, allows us to provide accurate quantification in 15 min even though the physiological range of the markers of interest varies over five orders of magnitude. We report sensitivities of 88%, 100%, and 80% and specificities of 97%, 100%, and 97% for iron deficiency (ferritin <15 ng/mL or 32 pmol/L), vitamin A deficiency (retinol-binding protein <14.7 µg/mL or 0.70 µmol/L) and inflammation status (C-reactive protein >3.0 µg/mL or 120 nmol/L), respectively. This technology is suitable for point-of-care use in both resource-rich and resource-limited settings and can be read either by a standard laptop computer or through our previously developed NutriPhone technology. If implemented as either a population-level screening or clinical diagnostic tool, we believe this platform can transform nutritional status assessment and monitoring globally.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 180110
[Lr] Last revision date:180110
[St] Status:In-Data-Review
[do] DOI:10.1073/pnas.1711464114

  10 / 2131 MEDLINE  
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[PMID]: 29193673
[Au] Autor:Nasser F; Weisschuh N; Maffei P; Milan G; Heller C; Zrenner E; Kohl S; Kuehlewein L
[Ad] Address:Institute for Ophthalmic Research, Centre for Ophthalmology, Eberhard Karls University, Tuebingen, Germany.
[Ti] Title:Ophthalmic features of cone-rod dystrophy caused by pathogenic variants in the ALMS1 gene.
[So] Source:Acta Ophthalmol;, 2017 Nov 30.
[Is] ISSN:1755-3768
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract: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. DNA samples were analysed using Sanger sequencing or exome sequencing. RESULTS: In our cohort, the ocular phenotype presented with a wide variability in retinal function and disease severity. However, age of symptom onset (i.e. nystagmus and photophobia) was at 6-9 months in all patients. These symptoms mostly mislead to the diagnosis of congenital achromatopsia (ACHM), Leber congenital amaurosis (LCA), isolated CORD or Bardet-Biedl syndrome. The systemic manifestations in our cohort were highly variable. CONCLUSION: In summary, we can report that most of our ALMS patients primarily presented with nystagmus and severe photophobia since early childhood interestingly without night blindness in the absence of systemic symptoms. Only genetic testing analysing both nonsyndromic retinal disease (RD) genes and syndromic ciliopathy genes by comprehensive panel sequencing can result in the correct diagnosis, genetically and clinically, with important implication for the physical health of the individual.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 171201
[Lr] Last revision date:171201
[St] Status:Publisher
[do] DOI:10.1111/aos.13612


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