Zobrazeno 1 - 10
of 193
pro vyhledávání: '"Oguchi disease"'
Autor:
R Padmapriya, Fathima Fahima Akbar
Publikováno v:
TNOA Journal of Ophthalmic Science and Research, Vol 62, Iss 3, Pp 358-360 (2024)
An 11-year-old boy presented with complaints of defective night vision. Visual acuity was 6/6 in both eyes. The fundus showed a golden-to-grey discoloration in light and on dark adaptation, the fundus reverted to its normal appearance demonstrating t
Externí odkaz:
https://doaj.org/article/e5726c4e008444d089a0b8c534a4f353
Publikováno v:
Oman Journal of Ophthalmology, Vol 16, Iss 3, Pp 567-569 (2023)
Externí odkaz:
https://doaj.org/article/908ecd8d8e5c4c7d8acf14a0d33194fd
Publikováno v:
BMC Ophthalmology, Vol 22, Iss 1, Pp 1-11 (2022)
Abstract Background Oguchi disease is a rare type of congenital stationary night blindness associated with an abnormal fundus appearance. It is inherited in an autosomal recessive manner where two types exist according to the gene affected; type 1 as
Externí odkaz:
https://doaj.org/article/bd4e86fecd8e402a9d4e6bfbaa2a37c3
Publikováno v:
BMC Ophthalmology, Vol 22, Iss 1, Pp 1-7 (2022)
Abstract Background Oguchi disease is a rare autosomal recessive form of congenital quiescent night blindness. Oguchi disease has been found to be associated with gene mutations in SAG and GRK1, which are vital factors in the recovery phase of photot
Externí odkaz:
https://doaj.org/article/732c5fbdcaba49609cb38684c41bd436
Publikováno v:
Iranian Journal of Public Health, Vol 49, Iss 5 (2020)
Oguchi disease is a rare autosomal recessive form of congenital stationary night blindness (CSNB) characterized by specific features such as golden-brown discoloration of the fundus called Mizuo-Nakamura phenomenon which is distinguishable by fundosc
Externí odkaz:
https://doaj.org/article/7ead0c2fa3f14610a8359ace909f1a7a
Akademický článek
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Autor:
Cideciyan, Artur V., Zhao, Xinyu, Nielsen, Lori, Khani, Shahrokh C., Jacobson, Samuel G., Palczewski, Krzysztof
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America, 1998 Jan 01. 95(1), 328-333.
Externí odkaz:
https://www.jstor.org/stable/44462
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
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Autor:
Eva Trevisson, Elisabetta Pilotto, Francesca Guidolin, Evelyn Longhin, Elisabetta Beatrice Nacci, Edoardo Midena
Publikováno v:
European Journal of Ophthalmology. 32:NP1-NP5
Background: Oguchi disease is a rare autosomal recessive retinal dystrophy, characterized by congenital stationary blindness and caused by pathogenic variants in SAG and GRK1 genes. The present study aimed to report an Italian patient affected by Ogu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c43b845c79f6d6f33ebda7a791ff9b29
https://doi.org/10.1177/11206721211027422
https://doi.org/10.1177/11206721211027422
Autor:
Alhaj Farhath Tasneem, Nischala Balakrishna, Vittal I Nayak, Sara Nastain, Nagalakshmi Narayana-Swamy
Publikováno v:
Indian Journal of Clinical and Experimental Ophthalmology. 6:660-663
Introduction: Oguchi disease also called congenital stationary night blindness is an autosomal recessivegenetic condition first identified in Japan with a few cases reported in other countries like Europe, America, India and Pakistan. We report one s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d17fce9b1acb0e8ead9264e09f8dfd40
https://doi.org/10.18231/j.ijceo.2020.141
https://doi.org/10.18231/j.ijceo.2020.141