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Expert Opinion on Orphan Drugs Volume 3, 2015 - Issue 5
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Review

Improvement in vision: a new goal for treatment of hereditary retinal degenerations

Samuel G JacobsonUniversity of Pennsylvania, Scheie Eye Institute, Perelman School of Medicine, Department of Ophthalmology, Philadelphia, PA, [email protected]
, MD PhD,
Artur V CideciyanUniversity of Pennsylvania, Scheie Eye Institute, Perelman School of Medicine, Department of Ophthalmology, Philadelphia, PA, [email protected]
, PhD,
Gustavo D AguirreUniversity of Pennsylvania, School of Veterinary Medicine, Section of Ophthalmology, Philadelphia, PA, USA
, VMD PhD,
Alejandro J RomanUniversity of Pennsylvania, Scheie Eye Institute, Perelman School of Medicine, Department of Ophthalmology, Philadelphia, PA, [email protected]
, MS,
Alexander SumarokaUniversity of Pennsylvania, Scheie Eye Institute, Perelman School of Medicine, Department of Ophthalmology, Philadelphia, PA, [email protected]
, PhD,
William W HauswirthUniversity of Florida, Department of Ophthalmology, Gainesville, FL, USA
, PhD &
Krzysztof PalczewskiCase Western University, School of Medicine, Cleveland Center for Membrane and Structural Biology, Department of Pharmacology, Cleveland, OH, USA
, PhD show all
Pages 563-575 | Published online: 26 Mar 2015

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R. B. Paisey & K. Leeson-Beevers. (2016) Current management of Alström syndrome and recent advances in treatment. Expert Opinion on Orphan Drugs 4:7, pages 747-759.
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Articles from other publishers (15)

Mariaelena Malvasi, Lorenzo Casillo, Filippo Avogaro, Alessandro Abbouda & Enzo Maria Vingolo. (2023) Gene Therapy in Hereditary Retinal Dystrophies: The Usefulness of Diagnostic Tools in Candidate Patient Selections. International Journal of Molecular Sciences 24:18, pages 13756.
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Cristy A. Ku, Austin D. Igelman, Samuel J. Huang, Huber Vasconcelos, Mariana Matioli da Palma, Steven T. Bailey, Andreas K. Lauer, Richard G. Weleber, Paul Yang & Mark E. Pennesi. (2023) Improved Rod Sensitivity as Assessed by Two-Color Dark-Adapted Perimetry in Patients With RPE65 -Related Retinopathy Treated With Voretigene Neparvovec-rzyl . Translational Vision Science & Technology 12:4, pages 17.
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Jakub Boguslawski, Grazyna Palczewska, Slawomir Tomczewski, Jadwiga Milkiewicz, Piotr Kasprzycki, Dorota Stachowiak, Katarzyna Komar, Marcin J. Marzejon, Bartosz L. Sikorski, Arkadiusz Hudzikowski, Aleksander Głuszek, Zbigniew Łaszczych, Karol Karnowski, Grzegorz Soboń, Krzysztof Palczewski & Maciej Wojtkowski. (2022) In vivo imaging of the human eye using a 2-photon-excited fluorescence scanning laser ophthalmoscope. Journal of Clinical Investigation 132:2.
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Samarendra Mohanty, Chinenye Idigo, Ananta Ayyagari & Darryl Narcisse. 2022. Handbook of Basic and Clinical Ocular Pharmacology and Therapeutics. Handbook of Basic and Clinical Ocular Pharmacology and Therapeutics 581 606 .
Albert M. Maguire, Jean Bennett, Elena M. Aleman, Bart P. Leroy & Tomas S. Aleman. (2021) Clinical Perspective: Treating RPE65-Associated Retinal Dystrophy. Molecular Therapy 29:2, pages 442-463.
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Kristin L. Gardiner, Artur V. Cideciyan, Malgorzata Swider, Valérie L. Dufour, Alexander Sumaroka, András M. Komáromy, William W. Hauswirth, Simone Iwabe, Samuel G. Jacobson, William A. Beltran & Gustavo D. Aguirre. (2020) Long-Term Structural Outcomes of Late-Stage RPE65 Gene Therapy. Molecular Therapy 28:1, pages 266-278.
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Rebecca L. Pfeiffer, Robert E. Marc & Bryan William Jones. (2020) Persistent remodeling and neurodegeneration in late-stage retinal degeneration. Progress in Retinal and Eye Research 74, pages 100771.
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Artur V. Cideciyan & Samuel G. Jacobson. (2019) Leber Congenital Amaurosis (LCA): Potential for Improvement of Vision. Investigative Opthalmology & Visual Science 60:5, pages 1680.
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Alireza Badiei, Raghavi Sudharsan, Evelyn Santana, Joshua L. Dunaief & Gustavo D. Aguirre. (2019) Comparative localization of cystathionine beta synthases and cystathionine gamma lyase in canine, non-human primate and human retina. Experimental Eye Research 181, pages 72-84.
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Sharola Dharmaraj, Anshuman Verma, P. Sundaresan & Chitra Kannabiran. 2019. Advances in Vision Research, Volume II. Advances in Vision Research, Volume II 191 231 .
Tomas S. Aleman, Grace Han, Leona W. Serrano, Nicole M. Fuerst, Emily S. Charlson, Denise J. Pearson, Daniel C. Chung, Anastasia Traband, Wei Pan, Gui-shuang Ying, Jean Bennett, Albert M. Maguire & Jessica I.W. Morgan. (2017) Natural History of the Central Structural Abnormalities in Choroideremia. Ophthalmology 124:3, pages 359-373.
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Kristin L. Gardiner, Louise Downs, Agnes I. Berta-Antalics, Evelyn Santana, Gustavo D. Aguirre & Sem Genini. (2016) Photoreceptor proliferation and dysregulation of cell cycle genes in early onset inherited retinal degenerations. BMC Genomics 17:1.
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M. Kalloniatis, L. Nivison-Smith, J. Chua, M.L. Acosta & E.L. Fletcher. (2016) Using the rd1 mouse to understand functional and anatomical retinal remodelling and treatment implications in retinitis pigmentosa: A review. Experimental Eye Research 150, pages 106-121.
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Kristy Lee & Natario L. Couser. (2016) Genetic Testing for Eye Diseases: A Comprehensive Guide and Review of Ocular Genetic Manifestations from Anterior Segment Malformation to Retinal Dystrophy. Current Genetic Medicine Reports 4:2, pages 41-48.
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Raquel Perez-Carro, Marta Corton, Iker Sánchez-Navarro, Olga Zurita, Noelia Sanchez-Bolivar, Rocío Sánchez-Alcudia, Stefan H. Lelieveld, Elena Aller, Miguel Angel Lopez-Martinez, Mª Isabel López-Molina, Patricia Fernandez-San Jose, Fiona Blanco-Kelly, Rosa Riveiro-Alvarez, Christian Gilissen, Jose M Millan, Almudena Avila-Fernandez & Carmen Ayuso. (2016) Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa. Scientific Reports 6:1.
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