Cargando…

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

Introduction: Inherited retinal degenerations (IRDs) have long been considered untreatable and incurable. Recently, one form of early-onset autosomal recessive IRD, Leber congenital amaurosis (LCA) caused by mutations in RPE65 (retinal pigment epithelium-specific protein 65 kDa) gene, has responded...

Descripción completa

Detalles Bibliográficos
Autores principales:	Jacobson, Samuel G, Cideciyan, Artur V, Aguirre, Gustavo D, Roman, Alejandro J, Sumaroka, Alexander, Hauswirth, William W, Palczewski, Krzysztof
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Informa Healthcare 2015
Materias:	Review
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4487613/ https://www.ncbi.nlm.nih.gov/pubmed/26246977 http://dx.doi.org/10.1517/21678707.2015.1030393

Ejemplares similares

A Novel ARL3 Gene Mutation Associated With Autosomal Dominant Retinal Degeneration
por: Ratnapriya, Rinki, et al.
Publicado: (2021)

Treatment Potential for Macular Cone Vision in Leber Congenital Amaurosis Due to CEP290 or NPHP5 Mutations: Predictions From Artificial Intelligence
por: Sumaroka, Alexander, et al.
Publicado: (2019)

Lentiviral Expression of Retinal Guanylate Cyclase-1 (RetGC1) Restores Vision in an Avian Model of Childhood Blindness
por: Williams, Melissa L, et al.
Publicado: (2006)

Leber Congenital Amaurosis (LCA): Potential for Improvement of Vision
por: Cideciyan, Artur V., et al.
Publicado: (2019)

Rod function deficit in retained photoreceptors of patients with class B Rhodopsin mutations
por: Cideciyan, Artur V., et al.
Publicado: (2020)

Leber Congenital Amaurosis Due to GUCY2D Mutations: Longitudinal Analysis of Retinal Structure and Visual Function
por: Jacobson, Samuel G., et al.
Publicado: (2021)

Childhood-onset genetic cone-rod photoreceptor diseases and underlying pathobiology
por: Garafalo, Alexandra V., et al.
Publicado: (2021)

Postretinal Structure and Function in Severe Congenital Photoreceptor Blindness Caused by Mutations in the GUCY2D Gene
por: Aguirre, Geoffrey K., et al.
Publicado: (2017)

Color Vision in Blue Cone Monochromacy: Outcome Measures for a Clinical Trial
por: Mascio, Abraham A., et al.
Publicado: (2023)

Complexity of the Class B Phenotype in Autosomal Dominant Retinitis Pigmentosa Due to Rhodopsin Mutations
por: Jacobson, Samuel G., et al.
Publicado: (2016)

Durable vision improvement after a single intravitreal treatment with antisense oligonucleotide in CEP290-LCA: Replication in two eyes
por: Cideciyan, Artur V., et al.
Publicado: (2023)

EYS Mutations Causing Autosomal Recessive Retinitis Pigmentosa: Changes of Retinal Structure and Function with Disease Progression
por: McGuigan, David B., et al.
Publicado: (2017)

Developing an Outcome Measure With High Luminance for Optogenetics Treatment of Severe Retinal Degenerations and for Gene Therapy of Cone Diseases
por: Cideciyan, Artur V., et al.
Publicado: (2016)

Autosomal Dominant Retinitis Pigmentosa Due to Class B Rhodopsin Mutations: An Objective Outcome for Future Treatment Trials
por: Sumaroka, Alexander, et al.
Publicado: (2019)

Canine Retina Has a Primate Fovea-Like Bouquet of Cone Photoreceptors Which Is Affected by Inherited Macular Degenerations
por: Beltran, William A., et al.
Publicado: (2014)

Macular Rod Function in Retinitis Pigmentosa Measured With Scotopic Microperimetry
por: Krishnan, Arun K., et al.
Publicado: (2021)

Leber congenital amaurosis caused by Lebercilin (LCA5) mutation: Retained photoreceptors adjacent to retinal disorganization
por: Jacobson, Samuel G., et al.
Publicado: (2009)

Foveal Therapy in Blue Cone Monochromacy: Predictions of Visual Potential From Artificial Intelligence
por: Sumaroka, Alexander, et al.
Publicado: (2020)

Translational Retinal Research and Therapies
por: Hardcastle, Alison J., et al.
Publicado: (2018)

BEST1 gene therapy corrects a diffuse retina-wide microdetachment modulated by light exposure
por: Guziewicz, Karina E., et al.
Publicado: (2018)

Canine and Human Visual Cortex Intact and Responsive Despite Early Retinal Blindness from RPE65 Mutation
por: Aguirre, Geoffrey K, et al.
Publicado: (2007)

Night vision restored in days after decades of congenital blindness
por: Jacobson, Samuel G., et al.
Publicado: (2022)

Photoreceptor Function and Structure in Autosomal Dominant Vitelliform Macular Dystrophy Caused by BEST1 Mutations
por: Cideciyan, Artur V., et al.
Publicado: (2022)

Mobility test to assess functional vision in dark-adapted patients with Leber congenital amaurosis
por: Roman, Alejandro J., et al.
Publicado: (2022)

Natural History of Cone Disease in the Murine Model of Leber Congenital Amaurosis Due to CEP290 Mutation: Determining the Timing and Expectation of Therapy
por: Boye, Shannon E., et al.
Publicado: (2014)

Short-Wavelength Sensitive Cone (S-cone) Testing as an Outcome Measure for NR2E3 Clinical Treatment Trials
por: Roman, Alejandro J., et al.
Publicado: (2019)

Photoreceptor Cells Influence Retinal Vascular Degeneration in Mouse Models of Retinal Degeneration and Diabetes
por: Liu, Haitao, et al.
Publicado: (2016)

A non-stop S-antigen gene mutation is associated with late onset hereditary retinal degeneration in dogs
por: Goldstein, Orly, et al.
Publicado: (2013)

Retinal Gene Distribution and Functionality Implicated in Inherited Retinal Degenerations Can Reveal Disease-Relevant Pathways for Pharmacologic Intervention
por: Mustafi, Debarshi, et al.
Publicado: (2019)

Safety and improved efficacy signals following gene therapy in childhood blindness caused by GUCY2D mutations
por: Jacobson, Samuel G., et al.
Publicado: (2021)

Pupillary Light Reflexes in Severe Photoreceptor Blindness Isolate the Melanopic Component of Intrinsically Photosensitive Retinal Ganglion Cells
por: Charng, Jason, et al.
Publicado: (2017)

Lipoic Acid and Progesterone Alone or in Combination Ameliorate Retinal Degeneration in an Experimental Model of Hereditary Retinal Degeneration
por: Ramírez-Lamelas, Dolores T., et al.
Publicado: (2018)

Deletion of Protein Phosphatase 2A Accelerates Retinal Degeneration in GRK1- and Arr1-Deficient Mice
por: Kolesnikov, Alexander V., et al.
Publicado: (2022)

Homeostatic plasticity in the retina is associated with maintenance of night vision during retinal degenerative disease
por: Leinonen, Henri, et al.
Publicado: (2020)

Primary amines protect against retinal degeneration in mouse models of retinopathies
por: Maeda, Akiko, et al.
Publicado: (2011)

Crystal Structure of Rhodopsin: Implication for Vision and Beyond. Mechanisms of Acti
por: Palczewski, Krzysztof
Publicado: (2002)

Blue Cone Monochromacy: Visual Function and Efficacy Outcome Measures for Clinical Trials
por: Luo, Xunda, et al.
Publicado: (2015)

Retinal Vascular Plexuses Are Unequally Affected in Canine Inherited Retinal Degenerations
por: Ripolles-Garcia, Ana, et al.
Publicado: (2022)

Outcome measure for the treatment of cone photoreceptor diseases: orientation to a scene with cone-only contrast
por: Roman, Alejandro J., et al.
Publicado: (2015)

Candidate Genetic Modifiers for RPGR Retinal Degeneration
por: Appelbaum, Tatyana, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_c4koqsafettcvutb01apusdqkb