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pro vyhledávání: '"Complete congenital stationary night blindness"'
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Publikováno v:
Case Reports in Ophthalmology, Vol 8, Iss 1, Pp 237-244 (2017)
Background: This report describes a 45-year-old man with complete congenital stationary night blindness (CSNB1) who has been followed up for 38 years. Case: The patient first visited our hospital as a 7-year-old boy with a complaint of low visual acu
Externí odkaz:
https://doaj.org/article/0f722025218c4c1ba35d9e71b9c7b8f3
Autor:
Takaaki Hayashi, Yusuke Murakami, Koh Hei Sonoda, Yoshito Koyanagi, Tadashi Nakano, Kei Mizobuchi
Publikováno v:
Ophthalmic Genetics. 42:412-419
Background: Complete congenital stationary night blindness (CSNB) is a retinal disorder thought to be non-progressive. The purpose of this study was to characterize the clinical and genetic finding...
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::566c57f5cc0a3277d48b77689e5841fb
https://doi.org/10.1080/13816810.2021.1904422
https://doi.org/10.1080/13816810.2021.1904422
Autor:
Ketevan V. Gorgisheli, Dmitry S. Atarshchikov, Inna V. Zolnikova, Marianna E. Ivanova, Preetam Ghosh, Debmalya Barh
Publikováno v:
Ophthalmic Genetics. 40:558-563
Background: The complete form of X-linked congenital stationary night blindness (CSNB1A) is a very rare genetic disease caused by mutation in the NYX gene. CSNB1A-associated several mutations in th...
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2ee5babe27c41300cb119723b9fd8a16
https://doi.org/10.1080/13816810.2019.1698617
https://doi.org/10.1080/13816810.2019.1698617
Autor:
José-Alain Sahel, Isabelle Audo, Monique Cordonnier, Aurore Tourville, Christel Condroyer, Christina Zeitz, Marc Abramowicz, Christelle Michiels, Audrey Meunier
Publikováno v:
Ophthalmic Genetics. 40:182-184
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7159c38cdb4923f99b92ccfff40cf080
https://doi.org/10.1080/13816810.2019.1605389
https://doi.org/10.1080/13816810.2019.1605389
Publikováno v:
Turkiye Klinikleri Journal of Ophthalmology. 27:267-272
Objective: To describe clinical findings and spectral domain optical coherence tomography (SD-OCT) features of our complete congenital stationary night blindness (CSNB) patients. Material and Methods: This retrospective study included 12 eyes of six
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::293a3ed694d4c38295a543aaaf3ded64
https://doi.org/10.5336/ophthal.2017-59346
https://doi.org/10.5336/ophthal.2017-59346
Autor:
Ronald G. Gregg, Gobinda Pangeni, Laura G. Reinholdt, Neal S. Peachey, Samantha Burrill, Son Yong Karst, Bernard FitzMaurice, Maureen A. McCall, Nazarul Hasan, Marge Strobel, Melissa L. Berry, Bo Chang
Publikováno v:
Journal of Neurophysiology. 118:845-854
This article describes a mouse model of the human disease complete congenital stationary night blindness in which the mutation reduces but does not eliminate GRM6 expression and bipolar cell function, a phenotype distinct from that seen in other Grm6
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e5d4572a8c2231c03ac04eec79477c38
https://doi.org/10.1152/jn.00888.2016
https://doi.org/10.1152/jn.00888.2016
Publikováno v:
Case Reports in Ophthalmology
Case Reports in Ophthalmology, Vol 8, Iss 1, Pp 237-244 (2017)
Case Reports in Ophthalmology, Vol 8, Iss 1, Pp 237-244 (2017)
Background: This report describes a 45-year-old man with complete congenital stationary night blindness (CSNB1) who has been followed up for 38 years. Case: The patient first visited our hospital as a 7-year-old boy with a complaint of low visual acu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da8680a76490a74a7acf6f11fa3056c0
http://europepmc.org/articles/PMC5422747
http://europepmc.org/articles/PMC5422747
Autor:
Robert C. Polomeno, Allison Dorfman, Pierre Lachapelle, Mathieu Gauvin, John M. Little, Dylan Vatcher
Publikováno v:
Documenta ophthalmologica. Advances in ophthalmology. 141(2)
To investigate the center-periphery distribution of ON and OFF retinal responses in complete congenital stationary night blindness (cCSNB). Photopic full-field flash ERGs (photopic ffERGs) and OPs (photopic ffOPs) and slow m-sequence (to enhance OP p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0123b21a75e73db96649ae5d687ce9ab
https://pubmed.ncbi.nlm.nih.gov/32060756
https://pubmed.ncbi.nlm.nih.gov/32060756
We report on the application of a light emitting diode (LED) screen to elicit multifocal ERG on- and off-responses in a patient presenting with the complete type of congenital stationary night blindness (cCSNB): A 63-years old woman was diagnosed wit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c467876e3390c5242c77ecc3050bac8b
http://doc.rero.ch/record/314593/files/10633_2005_Article_2303.pdf
http://doc.rero.ch/record/314593/files/10633_2005_Article_2303.pdf
