Zobrazeno 1 - 4
of 4
pro vyhledávání: '"ISCEV, International Society for Clinical Electrophysiology of Vision"'
Autor:
Camiel J. F. Boon, Emanuel R. de Carvalho, Michel Michaelides, Anthony G. Robson, Andrew A. Webster, Gavin Arno
Publikováno v:
Ophthalmology. Retina
Purpose To describe the detailed phenotype, long-term clinical course, clinical variability, and genotype of patients with enhanced S-cone syndrome (ESCS). Design Retrospective case series. Participants Fifty-six patients with ESCS. Methods Clinical
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::582d5517756c3b506d841c69cb6a713c
http://europepmc.org/articles/PMC7861019
http://europepmc.org/articles/PMC7861019
Autor:
Melanie A. Schmitt, James N. Ver Hoeve, Elizabeth R. Kellom, Tyler Etheridge, Rachel M. Sullivan
Publikováno v:
American Journal of Ophthalmology Case Reports
American Journal of Ophthalmology Case Reports, Vol 20, Iss, Pp 100873-(2020)
American Journal of Ophthalmology Case Reports, Vol 20, Iss, Pp 100873-(2020)
Purpose We present 3 cases of Alstrom syndrome (ALMS) that highlight the importance of the ophthalmic exam, as well as the diagnostic challenges and management considerations of this ultra-rare disease. Observations The first case is of a 2-year-old
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c195032e757e2fc9d51c9ca0da70f3b2
http://europepmc.org/articles/PMC7481517
http://europepmc.org/articles/PMC7481517
Autor:
Kamron N, Khan, Melissa, Kasilian, Omar A R, Mahroo, Preena, Tanna, Angelos, Kalitzeos, Anthony G, Robson, Kazushige, Tsunoda, Takeshi, Iwata, Anthony T, Moore, Kaoru, Fujinami, Michel, Michaelides
Publikováno v:
Ophthalmology
Purpose To describe the earliest features of ABCA4-associated retinopathy. Design Case series. Participants Children with a clinical and molecular diagnosis of ABCA4-associated retinopathy without evidence of macular atrophy. Methods The retinal phen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::3e26c197120686af6ec8f6d9c7a7c010
https://pubmed.ncbi.nlm.nih.gov/29310964
https://pubmed.ncbi.nlm.nih.gov/29310964
Autor:
Etheridge T; University of Wisconsin School of Medicine and Public Health, Department of Ophthalmology & Visual Sciences, Madison, WI, United States., Kellom ER; University of Wisconsin School of Medicine and Public Health, Department of Ophthalmology & Visual Sciences, Madison, WI, United States., Sullivan R; University of Wisconsin School of Medicine and Public Health, Department of Ophthalmology & Visual Sciences, Madison, WI, United States., Ver Hoeve JN; University of Wisconsin School of Medicine and Public Health, Department of Ophthalmology & Visual Sciences, Madison, WI, United States., Schmitt MA; University of Wisconsin School of Medicine and Public Health, Department of Ophthalmology & Visual Sciences, Madison, WI, United States.
Publikováno v:
American journal of ophthalmology case reports [Am J Ophthalmol Case Rep] 2020 Aug 12; Vol. 20, pp. 100873. Date of Electronic Publication: 2020 Aug 12 (Print Publication: 2020).