Výsledky vyhledávání - "David B. McGUIGAN"

Complexity of the Class B Phenotype in Autosomal Dominant Retinitis Pigmentosa Due to Rhodopsin Mutations

Autor: Tomas S. Aleman, Sharon B. Schwartz, Artur V. Cideciyan, Alejandro J. Roman, David B. McGuigan, Samuel G. Jacobson, Judy Palma, Alexander Sumaroka, Michaela L. Gruzensky, Rebecca Sheplock

Publikováno v: Investigative Ophthalmology & Visual Science

Purpose Previously, patients with RHO mutations and a class A phenotype were found to have severe early-onset loss of rod function, whereas patients with a class B phenotype retained rod function at least in certain retinal regions. Here class B pati

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c2ae646ecc7d968e906aed7bcb530a7
http://europepmc.org/articles/PMC5032913

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Reading Performance in Blue Cone Monochromacy: Defining an Outcome Measure for a Clinical Trial

Autor: Alejandro J. Roman, Rebecca Sheplock, Evelyn P. Semenov, Artur V. Cideciyan, David B. McGuigan, Samuel G. Jacobson, Malgorzata Swider

Publikováno v: Translational Vision Science & Technology

Purpose Blue cone monochromacy (BCM), a congenital X-linked retinal disease caused by mutations in the OPN1LW/OPN1MW gene cluster, is under consideration for intravitreal gene therapy. Difficulties with near vision tasks experienced by these patients

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af79ef8a546755373704447339c10458
https://doi.org/10.1167/tvst.9.13.13

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EYS Mutations Causing Autosomal Recessive Retinitis Pigmentosa: Changes of Retinal Structure and Function with Disease Progression

Autor: Rinki Ratnapriya, Samuel G. Jacobson, Alejandro J. Roman, Edwin M. Stone, Monica Lu, Artur V. Cideciyan, Alexander Sumaroka, David B. McGuigan, Elise Héon, Alexandra V. Garafalo, Anand Swaroop, Vaishnavi Batmanabane

Publikováno v: Genes; Volume 8; Issue 7; Pages: 178
Genes
Genes, Vol 8, Iss 7, p 178 (2017)

Mutations in the EYS (eyes shut homolog) gene are a common cause of autosomal recessive (ar) retinitis pigmentosa (RP). Without a mammalian model of human EYS disease, there is limited understanding of details of disease expression and rates of progr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0b2bc9f8e6b8b66c4847ff8ca82d92b

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Pupillary Light Reflexes in Severe Photoreceptor Blindness Isolate the Melanopic Component of Intrinsically Photosensitive Retinal Ganglion Cells

Autor: Alejandro J. Roman, Jason Charng, Mychajlo S. Kosyk, Malgorzata Swider, Rebecca Sheplock, David B. McGuigan, Artur V. Cideciyan, Samuel G. Jacobson, Elise Héon

Publikováno v: Investigative Ophthalmology & Visual Science

Purpose Pupillary light reflex (PLR) is driven by outer retinal photoreceptors and by melanopsin-expressing intrinsically photosensitive retinal ganglion cells of the inner retina. To isolate the melanopic component, we studied patients with severe v

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e2a898027b5879153593ef68a5e971f
https://pubmed.ncbi.nlm.nih.gov/28660274

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Outer Retinal Changes Including the Ellipsoid Zone Band in Usher Syndrome 1B due to MYO7A Mutations

Autor: Rebecca Sheplock, Samuel G. Jacobson, Rodrigo Matsui, David B. McGuigan, Sharon B. Schwartz, Alexander Sumaroka, Artur V. Cideciyan

Publikováno v: Investigative ophthalmologyvisual science. 57(9)

PURPOSE To study transition zones from normal to abnormal retina in Usher syndrome IB (USH1B) caused by myosin 7A (MYO7A) mutations. METHODS Optical coherence tomography (OCT) scattering layers in outer retina were segmented in patients (n = 16, ages

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f2318ef043a533c05cbb7d2951d3035
https://pubmed.ncbi.nlm.nih.gov/27409480

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SPATA7: Evolving phenotype from cone-rod dystrophy to retinitis pigmentosa

Autor: Michaela L. Gruzensky, Samuel G. Jacobson, Rodrigo Matsui, Tomas S. Aleman, Alexander Sumaroka, David B. McGuigan, Sharon B. Schwartz, Artur V. Cideciyan, Robert K. Koenekoop

Publikováno v: Ophthalmic genetics. 37(3)

SPATA7 mutations have been associated with different autosomal recessive retinal degeneration phenotypes. Long-term follow-up has not been described in detail.A Hispanic patient with SPATA7 mutations was evaluated serially over a 12-year period with

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b70c3f537b28920c341fdbc4504e73a
https://pubmed.ncbi.nlm.nih.gov/26854980

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Visual Function and Central Retinal Structure in Choroideremia

Autor: Shiyi Chen, Talal Alabduljalil, Shuning Li, Samuel G. Jacobson, Elise Héon, David B. McGuigan, Artur V. Cideciyan

Publikováno v: Investigative Opthalmology & Visual Science. 57:OCT377

PURPOSE To define the clinical phenotype of a cohort of patients affected with choroideremia. METHODS A retrospective study of patients with choroideremia included two centers. Data collected included age, visual acuity, refractive error, color visio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::521c796bee69400771868b04693ad42d
https://doi.org/10.1167/iovs.15-18421

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Automated Light- and Dark-Adapted Perimetry for Evaluating Retinitis Pigmentosa: Filling a Need to Accommodate Multicenter Clinical Trials

Autor: Michaela L. Gruzensky, Rebecca Sheplock, Rodrigo Matsui, David B. McGuigan, Samuel G. Jacobson, Alejandro J. Roman, Artur V. Cideciyan

Publikováno v: Investigative Opthalmology & Visual Science. 57:3118

Purpose The purpose of this study was to develop a convenient means to measure rod (and cone) function by automated perimetry in patients with inherited retinal degenerations (IRDs). Methods A currently available automated perimeter was used to deter

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::22882b5f10eb9afbc40007110e25b2d9
https://doi.org/10.1167/iovs.16-19302

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SHIP SYSTEMS TEST PROCESS -CONCEPT AND APPLICATION

Autor: David B. McGUIGAN, William J. Boylan

Publikováno v: Naval Engineers Journal. 98:157-170

Many ship systems introduced into the U.S. Navy are not operationally ready due to inadequate testing. The test process must be properly designed, constructed and operated, and is best controlled by program management techniques. The facilities avail

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e310abd99bb07649e697c7b00f647c68
https://doi.org/10.1111/j.1559-3584.1986.tb03427.x

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