Search Results - "Friedburg, C."

Unexpected Genetic Cause in Two Female Siblings with High Myopia and Reduced Visual Acuity by Lorenz, Birgit, Bowl, W., Friedburg, C., Preising, M. N.

“…In daily life, myopia is a frequent cause of reduced visual acuity (VA) due to missing or incomplete optical correction. While the genetic cause of high myopia…”
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Correlation of central visual function and ROP risk factors in prematures with and without acute ROP at the age of 6-13 years: the Giessen long-term ROP study by Bowl, W, Lorenz, B, Stieger, K, Schweinfurth, S, Holve, K, Friedburg, C, Andrassi-Darida, M

“…To correlate light increment sensitivity (LIS) and visual acuity (VA) with birth weight (BW), gestational age (GA) and stage of acute retinopathy of…”
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Contribution of cone photoreceptors and post-receptoral mechanisms to the human photopic electroretinogram by Friedburg, C., Allen, C. P., Mason, P. J., Lamb, T. D.

“…We recorded the electroretinogram (ERG) from human subjects with normal vision, using ganzfeld stimulation in the presence of rod-suppressing blue background…”
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Time course of the flash response of dark- and light-adapted human rod photoreceptors derived from the electroretinogram by Friedburg, C., Thomas, M. M., Lamb, T. D.

“…The a -wave of the electroretinogram was recorded from human subjects with normal vision, using a corneal electrode and ganzfeld stimulation. We applied the…”
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Autosomal recessive bestrophinopathy (ARB): a clinical and molecular description of two patients at childhood by Preising, M N, Pasquay, C, Friedburg, C, Bowl, W, Jäger, M, Andrassi-Darida, M, Lorenz, B

“…Autosomal recessive bestrophinopathy (ARB) is associated with mutations in BEST1. ARB is rarely diagnosed compared to BEST1-associated autosomal dominant (a…”
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Chorioretinal atrophy in pediatric cerebral folate deficiency-a preventable disease? by Kakkassery, V, Koschmieder, A, Walther, F, Lehbrink, R, Bertsche, A, Wortmann, S B, Buchmann, J, Jäger, M, Friedburg, C, Lorenz, B, Jünemann, A

“…Cerebral folate deficiency (CFD) results in neurological alterations and a massive degeneration of the choroid/retina if left untreated, which limit the visual…”
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Human cone photoreceptor responses measured by the electroretinogram a-wave during and after exposure to intense illumination by Paupoo, A. A. V., Mahroo, O. A. R., Friedburg, C., Lamb, T. D.

“…We recorded the a -wave of the electroretinogram from human subjects with normal vision, using a corneal fibre electrode and ganzfeld stimulation under…”
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Evaluation of the Night Vision Spectacles on patients with impaired night vision by FRIEDBURG, C, SEREY, L, SHARPE, L. T, TRAUZETTEL-KLOSINSKI, S, ZRENNER, E

“…The Night Vision Spectacles (NiViS) were developed by a consortium of European companies to assist individuals who suffer from impaired night vision. They…”
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Blind spot enlargement syndrome in acute zonal occult outer retinopathy with detection of autoantibodies against the retinal antigens CRALBP and S-Ag by Neutzner, R V, Jäger, M, Friedburg, C, Deeg, C A, Lorenz, B

“…Acute zonal occult outer retinopathy (AZOOR) is a rare disease and is part of the white dot syndrome occurring bilaterally and often asymmetrically in young…”
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Genetic and clinical heterogeneity in LCA patients. The end of uniformity by Preising, M N, Paunescu, K, Friedburg, C, Lorenz, B

“…Leber congenital amaurosis (LCA) usually describes patients with severely reduced vision due to a retinal dystrophy in early childhood. In 135 families in a…”
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Contact With Farm Animals in Early Life and Juvenile Inflammatory Bowel Disease: A Case-Control Study by Radon, Katja, Windstetter, Doris, Poluda, Anna Laura, Mueller, Beatrice, Mutius, Erika von, Koletzko, Sibylle, Chronische Autoimmunerkrankungen und Kontakt zu Tieren (Chronic Autoimmune Disease and Animal Contact) Study Group

“…The aim of this study was to test the association between farm animal contact in infancy and the development of juvenile Crohn disease and ulcerative colitis…”
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Inactivation of the Murine X-Linked Juvenile Retinoschisis Gene, Rs1h, Suggests a Role of Retinoschisin in Retinal Cell Layer Organization and Synaptic Structure by Bernhard H. F. Weber, Schrewe, Heinrich, Molday, Laurie L., Gehrig, Andrea, White, Karen L., Seeliger, Mathias W., Jaissle, Gesine B., Friedburg, Christoph, Tamm, Ernst, Molday, Robert S.

“…Deleterious mutations in RS1 encoding retinoschisin are associated with X-linked juvenile retinoschisis (RS), a common form of macular degeneration in males…”
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Seeing in the dusk: physiological basis and investigation by Friedburg, C

“…Dark adaptation and seeing in the dusk require a complex interaction of the cone and rod system. Whereas the former provides high temporal resolution and…”
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New views on RPE65 deficiency: the rod system is the source of vision in a mouse model of Leber congenital amaurosis by Redmond, T. Michael, Zrenner, Eberhart, Wenzel, Andreas, Remé, Charlotte E, Jaissle, Gesine, Biel, Martin, Fariss, Robert N, Humphries, Peter, Ståhlberg, Fredrik, Grimm, Christian, Seeliger, Mathias W, Hofmann, Franz, Friedburg, Christoph, Guo, Hao

“…Leber congenital amaurosis (LCA) is the most serious form of the autosomal recessive childhood-onset retinal dystrophies. Mutations in the gene encoding RPE65,…”
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Abnormalities of the long flash ERG in congenital stationary night blindness of the Schubert–Bornschein type by Langrová, Hana, Gamer, Daphne, Friedburg, Christoph, Besch, Dorothea, Zrenner, Eberhart, Apfelstedt-Sylla, Eckart

“…We investigated abnormalities of the retinal cone ON- and OFF-pathways in 24 males with Schubert–Bornschein congenital stationary night blindness (CSNB)…”
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ERRATA by Paupoo, A. A. V., Mahroo, O. A. R., Friedburg, C., Lamb, T. D.

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ERRATA by Paupoo, A A V, Mahroo, O A R, Friedburg, C, Lamb, T D

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ERRATA by Paupoo, A. A. V., Mahroo, O. A. R., Friedburg, C., Lamb, T. D.

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Chorioretinale Atrophie bei kindlichem zerebralem Folatmangel – eine vermeidbare Erkrankung? by Kakkassery, V., Koschmieder, A., Walther, F., Lehbrink, R., Bertsche, A., Wortmann, S. B., Buchmann, J., Jäger, M., Friedburg, C., Lorenz, B., Jünemann, A.

“…Zusammenfassung Der zerebrale Folatmangel (CFD) führt unbehandelt neben neurologischen Veränderungen zu einer massiven Degeneration der Aderhaut/Netzhaut, die…”
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A computer-controlled system for measuring dark adaptation and other psychophysical functions by Friedburg, C, Sharpe, Lindsay T, Beuel, Stefan, Eberhart Zrenner

“…* Background: Psychophysical thresholds, including dark-adaptation functions and increment threshold sensitivities, are useful for the early detection and…”
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