Zobrazeno 1 - 10
of 209
pro vyhledávání: '"enhanced S-cone syndrome"'
Autor:
Anmol Naik, Dhanashree Ratra, Aniruddha Banerjee, Daleena Dalan, Sourabh Jandyal, Girish Rao, Parveen Sen, Muna Bhende, V Jayaprakash, Pradeep Susvar, Jaydeep Walinjkar, Chetan Rao
Publikováno v:
Indian Journal of Ophthalmology, Vol 67, Iss 4, Pp 523-529 (2019)
Purpose: Enhanced S-cone syndrome (ESCS), a rare disorder, is often misdiagnosed as other forms of retinal degenerations, which have a poorer prognosis than ESCS. The aim of this study is to report the varied clinical features of ESCS and distinguish
Externí odkaz:
https://doaj.org/article/30b98867ceab4317bc814d2dca981200
Autor:
Giancarlo Iarossi, Lorenzo Sinibaldi, Chiara Passarelli, Andrea Maria Coppe’, Alessandro Cappelli, Gianni Petrocelli, Gino Catena, Chiara Perrone, Benedetto Falsini, Antonio Novelli, Andrea Bartuli, Luca Buzzonetti
Publikováno v:
Diagnostics, Vol 12, Iss 9, p 2183 (2022)
Enhanced S-cone syndrome (ESCS) is a rare autosomal recessive retinal degeneration mainly associated with pathogenic variations in the NR2E3 gene. Only a few pathogenic variations in the NRL gene associated with ESCS have been reported to date. Here,
Externí odkaz:
https://doaj.org/article/100e43fa61934ef6a5888b2489c699ae
Akademický článek
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Autor:
Izarbe Aísa-Marín, M. José López-Iniesta, Santiago Milla, Jaume Lillo, Gemma Navarro, Pedro de la Villa, Gemma Marfany
Publikováno v:
Neurobiology of Disease, Vol 146, Iss , Pp 105122- (2020)
Mutations in NR2E3 cause retinitis pigmentosa (RP) and enhanced S-cone syndrome (ESCS) in humans. This gene produces a large isoform encoded in 8 exons and a previously unreported shorter isoform of 7 exons, whose function is unknown. We generated tw
Externí odkaz:
https://doaj.org/article/ea26a9e5223047c198eb898888dd2fef
Publikováno v:
Case Reports in Ophthalmology, Vol 9, Iss 3, Pp 510-515 (2018)
Introduction: We describe the youngest case of enhanced S-cone syndrome (ESCS) associated with choroidal neovascularization (CNV) successfully treated with intravitreal ranibizumab injections. Case Report: A 5-year-old boy presented with round-shaped
Externí odkaz:
https://doaj.org/article/789fc402877445e19b3ad5d15cd3dd32
Autor:
Angelo Maria Minnella, Valeria Pagliei, Maria Cristina Savastano, Matteo Federici, Matteo Bertelli, Paolo Enrico Maltese, Giorgio Placidi, Giovanni Corbo, Benedetto Falsini, Aldo Caporossi
Publikováno v:
Journal of Medical Case Reports, Vol 12, Iss 1, Pp 1-8 (2018)
Abstract Background Enhanced S-cone syndrome is an autosomal recessive retinal dystrophy related to a defect in a nuclear receptor gene (NR2E3) that leads to alteration in cells development from rod to S-cone. This retinal dystrophy may be associated
Externí odkaz:
https://doaj.org/article/e88be0b6226a4c09ba4a75ed5fc9db65
Akademický článek
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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
Publikováno v:
Ophthalmology Retina. 5:918-927
Purpose To highlight recognizable patterns of subretinal fibrosis in enhanced S-cone syndrome (ESCS). Design Retrospective case series. Participants Forty-seven patients with subretinal fibrosis identified from 101 patients with clinically diagnosed
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fec22f3f576f7fd9a505d5cc4fff3dae
https://doi.org/10.1016/j.oret.2021.03.014
https://doi.org/10.1016/j.oret.2021.03.014
Akademický článek
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