Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice.

Autor: Sarah J Garnai, Michelle L Brinkmeier, Ben Emery, Tomas S Aleman, Louise C Pyle, Biliana Veleva-Rotse, Robert A Sisk, Frank W Rozsa, Ayse Bilge Ozel, Jun Z Li, Sayoko E Moroi, Steven M Archer, Cheng-Mao Lin, Sarah Sheskey, Laurel Wiinikka-Buesser, James Eadie, Jill E Urquhart, Graeme C M Black, Mohammad I Othman, Michael Boehnke, Scot A Sullivan, Gregory L Skuta, Hemant S Pawar, Alexander E Katz, Laryssa A Huryn, Robert B Hufnagel, Genomic Ascertainment Cohort, Sally A Camper, Julia E Richards, Lev Prasov

Publikováno v: PLoS Genetics, Vol 15, Iss 5, p e1008130 (2019)

Nanophthalmos is a rare, potentially devastating eye condition characterized by small eyes with relatively normal anatomy, a high hyperopic refractive error, and frequent association with angle closure glaucoma and vision loss. The condition constitu

Externí odkaz: https://doaj.org/article/94bbb35e2ae74ac4ade880700b4d20c2

Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice

Autor: Mohammad Othman, Gregory L. Skuta, Laurel Wiinikka-Buesser, Jun Li, Lev Prasov, Louise C. Pyle, Alexander E. Katz, Biliana O. Veleva-Rotse, S. A. Sullivan, Sayoko E. Moroi, Robert A. Sisk, Sally A. Camper, Ayse Bilge Ozel, Laryssa A. Huryn, Sarah Sheskey, James Eadie, Frank W. Rozsa, Cheng-mao Lin, Michael Boehnke, Julia E. Richards, Jill E. Urquhart, Michelle L. Brinkmeier, Sarah J. Garnai, Steven M. Archer, Tomas S. Aleman, Robert B. Hufnagel, Ben Emery, Hemant Pawar, Graeme C.M. Black

Publikováno v: PLoS Genetics
PLoS Genetics, Vol 15, Iss 5, p e1008130 (2019)
Genomic Ascertainment Cohort 2019, ' Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice ', PLoS Genetics, vol. 15, no. 5, pp. e1008130 . https://doi.org/10.1371/journal.pgen.1008130

Nanophthalmos is a rare, potentially devastating eye condition characterized by small eyes with relatively normal anatomy, a high hyperopic refractive error, and frequent association with angle closure glaucoma and vision loss. The condition constitu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4165f7c273e641895a3c0d2d0a5d02cb
https://doi.org/10.1371/journal.pgen.1008130

The Evolution of the American Board of Ophthalmology Written Qualifying Examination

Autor: Gregory L. Skuta, Bhavna P. Sheth, David J. Wilson, William Tasman

Publikováno v: Ophthalmology. 123

Since the inception of board certification in ophthalmology in 1916, a written assessment of candidates' knowledge base has been an integral part of the certification process. Although the committee structure and technique for writing examination que

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::facc8e22ddd363e24757762099019f21
https://pubmed.ncbi.nlm.nih.gov/27549996

Management of Blebitis by Members of the American Glaucoma Society: A Survey

Autor: Gregory L. Skuta, Jay Johnson, Roy Monlux, Adam C. Reynolds

Publikováno v: Journal of Glaucoma. 10:340-347

Purpose To investigate the practice patterns among glaucoma subspecialists in the American Glaucoma Society regarding the management of blebitis. Methods An anonymous survey incorporating 14 questions regarding the management of blebitis was mailed t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e09e9dde44bdb58e57dfcd8f084308c0
https://doi.org/10.1097/00061198-200108000-00015

[Untitled]

Autor: Gregory L. Skuta, Adam C. Reynolds

Publikováno v: Ophthalmology Clinics of North America. 13:501-515

The goal of glaucoma filtering surgery is to establish a permanent flow of aqueous from the anterior chamber to the subconjunctival space and thereby lower intraocular pressure (IOP) in eyes with uncontrolled glaucoma. Although often successful when

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::4c1e04314c77ac808edb949ae42eb610
https://doi.org/10.1016/s0896-1549(05)70210-8