Zobrazeno 1 - 10
of 234
pro vyhledávání: '"Mark E, Pennesi"'
Autor:
Garen Gaston, Shannon Babcock, Renee Ryals, Gabriela Elizondo, Tiffany DeVine, Dahlia Wafai, William Packwood, Sarah Holden, Jacob Raber, Jonathan R. Lindner, Mark E. Pennesi, Cary O. Harding, Melanie B. Gillingham
Publikováno v:
Communications Biology, Vol 6, Iss 1, Pp 1-12 (2023)
Abstract Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a fatty acid oxidation disorder (FAOD) caused by a pathogenic variant, c.1528 G > C, in HADHA encoding the alpha subunit of trifunctional protein (TFPα). Individuals with LCH
Externí odkaz:
https://doaj.org/article/27dc8e84c82a44eea30edebfa30e25b7
Autor:
Nida Wongchaisuwat, Jie Wang, Paul Yang, Lesley Everett, Ashley Gregor, Jose Alain Sahel, Ken K. Nischal, Mark E. Pennesi, Melanie B. Gillingham, Yali Jia
Publikováno v:
American Journal of Ophthalmology Case Reports, Vol 32, Iss , Pp 101958- (2023)
Purpose: To report the clinical utility of optical coherence tomography angiography (OCTA) for demonstrating choroidal neovascularization (CNV) associated with Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHADD) retinopathy. Methods: Thirt
Externí odkaz:
https://doaj.org/article/a27edeaf106348bb8700b47a3d911212
Publikováno v:
American Journal of Ophthalmology Case Reports, Vol 30, Iss , Pp 101842- (2023)
Purpose: We present a unique case of foveomacular vitelliform lesions in a patient with metabolic encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS). Observations: After performing large panel next generation sequencing genetic testi
Externí odkaz:
https://doaj.org/article/6e5c0f7252cb493ebf1810e4f56eed47
Publikováno v:
American Journal of Ophthalmology Case Reports, Vol 27, Iss , Pp 101677- (2022)
Purpose: To report a case of iatrogenic choroidal neovascularization (CNV) developing one month after subretinal gene therapy surgery. Observations: A 16-year-old male with biallelic RPE65 mutation associated retinal dystrophy was treated with subret
Externí odkaz:
https://doaj.org/article/b9e4bfcd30c3408fa2c4c33657c5b517
Publikováno v:
International Journal of Retina and Vitreous, Vol 6, Iss 1, Pp 1-10 (2020)
Abstract Background To analyze intraoperative OCT (iOCT) findings during subretinal gene therapy. Methods A single-center, retrospective, observational, case series study of twenty one eyes submitted to subretinal gene therapy. Intrasurgical high def
Externí odkaz:
https://doaj.org/article/5be4742d7a1c44358f7967fc0cd7822d
Autor:
Maria F. Shurygina, Maria A. Parker, Catie L. Schlechter, Rui Chen, Yumei Li, Richard G. Weleber, Paul Yang, Mark E. Pennesi
Publikováno v:
BMC Ophthalmology, Vol 19, Iss 1, Pp 1-9 (2019)
Abstract Background Alström syndrome (AS) is a rare monogenic disorder characterized by progressive multi-organ pathology including retinal degeneration, hearing impairment and type 2 diabetes. Here we present clinical features in two siblings diagn
Externí odkaz:
https://doaj.org/article/bda1d1cc62b54740bac0abb1824ece09
Autor:
Emily J. Patterson, PhD, Christopher S. Langlo, MD, PhD, Michalis Georgiou, MD, PhD, Angelos Kalitzeos, PhD, Mark E. Pennesi, MD, PhD, Jay Neitz, PhD, Alison J. Hardcastle, PhD, Maureen Neitz, PhD, Michel Michaelides, MD, PhD, Joseph Carroll, PhD
Publikováno v:
Ophthalmology Science, Vol 1, Iss 3, Pp 100047- (2021)
Purpose: To compare foveal hypoplasia and the appearance of the ellipsoid zone (EZ) at the fovea in patients with genetically confirmed achromatopsia (ACHM) and blue cone monochromacy (BCM). Design: Retrospective, multicenter observational study. Par
Externí odkaz:
https://doaj.org/article/8d70d9771b684c19af9149cae1227556
Autor:
Mauricio E Vargas, Mark E Pennesi, Rui Chen, Paul Yang, Richard G Weleber, Mariana Matioli da Palma, Amanda Burr
Publikováno v:
BMJ Open Ophthalmology, Vol 6, Iss 1 (2021)
Objective Autosomal dominant vitreoretinochoroidopathy (ADVIRC) is associated with pathogenic variants in BEST1, which typically causes visual impairment in the late stage of disease. We present a pedigree with variable expressivity and the youngest
Externí odkaz:
https://doaj.org/article/b0f5f7811a3b4385a9a6ea63f548d9dc
Autor:
Jacque L. Duncan, Peiyao Cheng, Maureen G. Maguire, Allison A. Ayala, David G. Birch, Janet K. Cheetham, Todd A. Durham, Abigail T. Fahim, Carel B. Hoyng, Hiroshi Ishikawa, Michel Michaelides, Mark E. Pennesi, José-Alain Sahel, Katarina Stingl, Christina Y. Weng
Publikováno v:
American Journal of Ophthalmology, 250, pp. 103-110
American Journal of Ophthalmology, 250, 103-110
American Journal of Ophthalmology, 250, 103-110
Item does not contain fulltext
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4232da9df43f391a08bdd13e5d68bf7
https://doi.org/10.1016/j.ajo.2023.02.002
https://doi.org/10.1016/j.ajo.2023.02.002
Publikováno v:
American Journal of Ophthalmology Case Reports, Vol 21, Iss , Pp 100996- (2021)
Purpose: To report the case of a ten-year old girl with torpedo maculopathy with a complete vitelliform lesion and describe associated optical coherence tomography (OCT), OCT angiography (OCTA), multifocal electroretinogram (ERG) and adaptive optics
Externí odkaz:
https://doaj.org/article/9001939b7a1b4c55971a50e8f059a7da