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Genetics June 2021

Characterization of the Spectrum of Ophthalmic Changes in Patients With Alagille Syndrome

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Mariana Matioli da Palma; Austin D. Igelman; Cristy Ku; Amanda Burr; Jia Yue You; Emily M. Place; Nan-Kai Wang; Jin Kyun Oh; Kari E. Branham; Xinxin Zhang; Jeeyun Ahn; Michael B. Gorin; Byron L. Lam; Cecinio C. Ronquillo; Paul S. Bernstein; Aaron Nagiel; Rachel Huckfeldt; Michelle T. Cabrera; John P. Kelly; Benjamin Bakall; Alessandro Iannaccone; Robert B. Hufnagel; Wadih M. Zein; Robert K. Koenekoop; David G. Birch; Paul Yang; Abigail T. Fahim; Mark E. Pennesi
TAGS: arteriohepatic dysplasia, eye
Invest. Ophthalmol. Vis. Sci.. 2021; 62(7):27. doi: https://doi.org/10.1167/iovs.62.7.27

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2021

Phenotypic and genotypic spectrum of HGSNAT-related retinopathy

Mariana Matioli da Palma; Austin D. Igelman; Amanda Burr; Cristy Ann Ku; Paul Yang; Juliana M.F. Sallum; Mark E Pennesi

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):3225. doi:

ARVO Annual Meeting Abstract June 2021

Six Month Findings from a Phase 1/2 Clinical Study of Subretinal Gene Therapy Drug AGTC-501 for X-Linked Retinitis Pigmentosa Show Clinically Meaningful Improvement in Macular Sensitivity

Paul Yang; Andreas Lauer; Mark E Pennesi; David G Birch; rand spencer; Robert A Sisk; Alessandro Iannaccone; Erin Leone; Deanine Halliman; Nnenna Ihekoromadu; Matthew Feinsod

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):1481. doi:

ARVO Annual Meeting Abstract June 2021

Twelve-month Findings from Two Phase 1/2 Clinical Studies of Subretinal Gene Therapy Drugs for Achromatopsia

Mark E Pennesi; Paul Yang; Andreas Lauer; Robert A Sisk; Jason M Comander; Rachel M. Huckfeldt; Edward Averbuhk; Eyal Banin; Ninel Gregori; Janet L Davis; Byron L Lam; Christine Kay; Erin Leone; Deanine Halliman; Nnenna Ihekoromadu; Matthew Feinsod

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):3321. doi:

ARVO Annual Meeting Abstract June 2021

Treatment outcomes in 11 patients with RPE65- retinopathy receiving voritegene neparvovec-rzyl

Cristy Ann Ku; Mariana Matioli da Palma; Austin Igelman; Andreas Lauer; Steven Bailey; Jacque L Duncan; Paul Yang; Mark E Pennesi

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):3320. doi:

ARVO Annual Meeting Abstract June 2021

Effect of pupil dilation on dark adapted perimetry using an Octopus 900 perimeter

Austin Igelman; Cristy Ann Ku; Mariana Matioli da Palma; Paul Yang; Mark E Pennesi

Invest. Ophthalmol. Vis. Sci.. 2021; 62(8):499. doi:

Retina November 2020

Genotype Phenotype Correlation and Variability in Microcephaly Associated With Chorioretinopathy or Familial Exudative Vitreoretinopathy

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Maria F. Shurygina; Joseph M. Simonett; Maria A. Parker; Amanda Mitchell; Florin Grigorian; Jacob Lifton; Aaron Nagiel; Alexander A. Shpak; Elena L. Dadali; Irina A. Mishina; Richard G. Weleber; Paul Yang; Mark E. Pennesi

Invest. Ophthalmol. Vis. Sci.. 2020; 61(13):2. doi: https://doi.org/10.1167/iovs.61.13.2

Includes: Supplemental Content

Articles October 2020

A Ketogenic & Low-Protein Diet Slows Retinal Degeneration in rd10 Mice

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Renee C. Ryals; Samuel J. Huang; Dahlia Wafai; Claire Bernert; William Steele; Makayla Six; Shasank Bonthala; Hope Titus; Paul Yang; Melanie Gillingham; Mark E. Pennesi
TAGS: diet, diet, protein-restricted, mice, proteins, retina, retinal degeneration, electroretinography, serum albumin
Trans. Vis. Sci. Tech.. 2020; 9(11):18. doi: https://doi.org/10.1167/tvst.9.11.18

Includes: Multimedia, Supplemental Content

Retina August 2020

Suppression of cGMP-Dependent Photoreceptor Cytotoxicity With Mycophenolate Is Neuroprotective in Murine Models of Retinitis Pigmentosa

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Paul Yang; Rachel Lockard; Hope Titus; Jordan Hiblar; Kyle Weller; Dahlia Wafai; Richard G. Weleber; Robert M. Duvoisin; Catherine W. Morgans; Mark E. Pennesi
TAGS: cyclic gmp, cytotoxicity, mice, photoreceptors, mycophenolate mofetil, retinitis pigmentosa
Invest. Ophthalmol. Vis. Sci.. 2020; 61(10):25. doi: https://doi.org/10.1167/iovs.61.10.25

Includes: Supplemental Content

ARVO Annual Meeting Abstract June 2020

Neuroprotective Mechanisms of Dark Rearing on cGMP in rd10 mice

Paul Yang; Hope Titus; Jordan Hiblar; Dahlia Wafai; Robert M Duvoisin; Richard G Weleber; Catherine W Morgans; Mark E Pennesi

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):2482. doi:

Review June 2020

Advancing Clinical Trials for Inherited Retinal Diseases: Recommendations from the Second Monaciano Symposium

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Debra A. Thompson; Alessandro Iannaccone; Robin R. Ali; Vadim Y. Arshavsky; Isabelle Audo; James W. B. Bainbridge; Cagri G. Besirli; David G. Birch; Kari E. Branham; Artur V. Cideciyan; Steven P. Daiger; Deniz Dalkara; Jacque L. Duncan; Abigail T. Fahim; John G. Flannery; Roberto Gattegna; John R. Heckenlively; Elise Heon; K. Thiran Jayasundera; Naheed W. Khan; Henry Klassen; Bart P. Leroy; Robert S. Molday; David C. Musch; Mark E. Pennesi; Simon M. Petersen-Jones; Eric A. Pierce; Rajesh C. Rao; Thomas A. Reh; Jose A. Sahel; Dror Sharon; Paul A. Sieving; Enrica Strettoi; Paul Yang; David N. Zacks; The Monaciano Consortium
TAGS: outcome measures, retinal diseases, surrogate endpoints, genetics, vision, natural history, ethics, gene therapy
Trans. Vis. Sci. Tech.. 2020; 9(7):2. doi: https://doi.org/10.1167/tvst.9.7.2

ARVO Annual Meeting Abstract July 2019

Early Treatment with Mycophenolate Reduces Microglial Migration in rd10 mice

Paul Yang; Hope Titus; Kyle Weller; Robert Duvoisin; Richard Weleber; Catherine W Morgans; Mark E Pennesi

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):453. doi:

ARVO Annual Meeting Abstract July 2019

Autoimmune retinopathy in two patients with stiff-person syndrome with anti-GAD65 autoantibodies

Mauricio E Vargas; Huber Vasconcelos Junior; Sufang Yang; Grazyna Adamus; Paul Yang

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):815. doi:

ARVO Annual Meeting Abstract July 2019

Expanded clinical spectrum of pentosan polysulfate sodium-associated pigmentary maculopathy

Adam Marcus Hanif; Stanford Taylor; Stephen Armenti; Rachel Shah; Austin Igelman; Mark E Pennesi; Thiran Jayasundera; Paul Yang; Thomas S Hwang; Christina J Flaxel; Rahul Khurana; Joshua D Stein; Nieraj Jain

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):3245. doi:

ARVO Annual Meeting Abstract July 2019

Neuroprotective Mechanisms of Dark Rearing in rd10 mice

Hope Titus; Kyle Weller; Rachel Lockard; Richard Weleber; Mark E Pennesi; Paul Yang

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):4887. doi:

ARVO Annual Meeting Abstract July 2019

An analysis of intraoperative optical coherence tomography findings in subretinal gene therapy surgery

Huber Vasconcelos Junior; Paul Yang; Mark E Pennesi; Brandon J Lujan; Andreas K Lauer

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):6399. doi:

Retina March 2019

Monomethyl Fumarate Protects the Retina From Light-Induced Retinopathy

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Dan Jiang; Renee C. Ryals; Samuel J. Huang; Kyle K. Weller; Hope E. Titus; Bryan M. Robb; Firas W. Saad; Ribal A. Salam; Hytham Hammad; Paul Yang; Daniel L. Marks; Mark E. Pennesi
TAGS: fumarates, mice, microglia, retina, retinal degeneration, retinal diseases, light exposure
Invest. Ophthalmol. Vis. Sci.. 2019; 60(4):1275-1285. doi: https://doi.org/10.1167/iovs.18-24398

Includes: Supplemental Content

Retina December 2018

Prospective Evaluation of Patients With X-Linked Retinoschisis During 18 Months

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Mark E. Pennesi; David G. Birch; K. Thiran Jayasundera; Maria Parker; Ou Tan; Rabia Gurses-Ozden; Carrie Reichley; Kathleen N. Beasley; Paul Yang; Richard G. Weleber; Lea D. Bennett; John R. Heckenlively; Kalyani Kothapalli; Jeffrey D. Chulay; for the XLRS-001 Study Group
TAGS: cysts, electroretinography, eye, perimetry, vision, visual acuity, volume, x-linked retinoschisis, contrast sensitivity, cutaneous collagenous vasculopathy
Invest. Ophthalmol. Vis. Sci.. 2018; 59(15):5941-5956. doi: https://doi.org/10.1167/iovs.18-24565

Includes: Supplemental Content

ARVO Annual Meeting Abstract July 2018

Dark-rearing reduces degeneration and alters the characteristics of cGMP dysregulation in rd10 mice

Hope Titus; Kyle K. Weller; Jenny Li; Richard G Weleber; Mark E Pennesi; Paul Yang

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):1001. doi:

ARVO Annual Meeting Abstract July 2018

Projection-Resolved Optical Coherence Tomography Angiography of Retinal Plexusess in Retinitis Pigmentosa and Usher Syndrome Type 1

Ahmed M Hagag; JIE WANG; Terry Wood; Joseph Michael Simonett; Gareth Harman; Kevin Liu; David Huang; Richard G Weleber; Mark E Pennesi; Paul Yang; Yali Jia

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):2842. doi:

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Characterization of the Spectrum of Ophthalmic Changes in Patients With Alagille Syndrome

Phenotypic and genotypic spectrum of HGSNAT-related retinopathy

Six Month Findings from a Phase 1/2 Clinical Study of Subretinal Gene Therapy Drug AGTC-501 for X-Linked Retinitis Pigmentosa Show Clinically Meaningful Improvement in Macular Sensitivity

Twelve-month Findings from Two Phase 1/2 Clinical Studies of Subretinal Gene Therapy Drugs for Achromatopsia

Treatment outcomes in 11 patients with RPE65- retinopathy receiving voritegene neparvovec-rzyl

Effect of pupil dilation on dark adapted perimetry using an Octopus 900 perimeter

Genotype Phenotype Correlation and Variability in Microcephaly Associated With Chorioretinopathy or Familial Exudative Vitreoretinopathy

A Ketogenic & Low-Protein Diet Slows Retinal Degeneration in rd10 Mice

Suppression of cGMP-Dependent Photoreceptor Cytotoxicity With Mycophenolate Is Neuroprotective in Murine Models of Retinitis Pigmentosa

Neuroprotective Mechanisms of Dark Rearing on cGMP in rd10 mice

Advancing Clinical Trials for Inherited Retinal Diseases: Recommendations from the Second Monaciano Symposium

Early Treatment with Mycophenolate Reduces Microglial Migration in rd10 mice

Autoimmune retinopathy in two patients with stiff-person syndrome with anti-GAD65 autoantibodies

Expanded clinical spectrum of pentosan polysulfate sodium-associated pigmentary maculopathy

Neuroprotective Mechanisms of Dark Rearing in rd10 mice

An analysis of intraoperative optical coherence tomography findings in subretinal gene therapy surgery

Monomethyl Fumarate Protects the Retina From Light-Induced Retinopathy

Prospective Evaluation of Patients With X-Linked Retinoschisis During 18 Months

Dark-rearing reduces degeneration and alters the characteristics of cGMP dysregulation in rd10 mice

Projection-Resolved Optical Coherence Tomography Angiography of Retinal Plexusess in Retinitis Pigmentosa and Usher Syndrome Type 1

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