Cargando…

Treatment Potential for Macular Cone Vision in Leber Congenital Amaurosis Due to CEP290 or NPHP5 Mutations: Predictions From Artificial Intelligence

PURPOSE: To use supervised machine learning to predict visual function from retinal structure in retinitis pigmentosa (RP) and apply these estimates to CEP290- and NPHP5-associated Leber congenital amaurosis (LCA) to determine the potential for functional improvement. METHODS: Patients with RP (n =...

Descripción completa

Detalles Bibliográficos
Autores principales:	Sumaroka, Alexander, Garafalo, Alexandra V., Semenov, Evelyn P., Sheplock, Rebecca, Krishnan, Arun K., Roman, Alejandro J., Jacobson, Samuel G., Cideciyan, Artur V.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	The Association for Research in Vision and Ophthalmology 2019
Materias:	Retina
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6586080/ https://www.ncbi.nlm.nih.gov/pubmed/31212307 http://dx.doi.org/10.1167/iovs.19-27156

Ejemplares similares

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)

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

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

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

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

Ocular and extra-ocular features of patients with Leber congenital amaurosis and mutations in CEP290
por: Yzer, Suzanne, et al.
Publicado: (2012)

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

Treatment Potential for LCA5-Associated Leber Congenital Amaurosis
por: Uyhazi, Katherine E., et al.
Publicado: (2020)

Rescue of cone function in cone-only Nphp5 knockout mouse model with Leber congenital amaurosis phenotype
por: Hanke-Gogokhia, Christin, et al.
Publicado: (2018)

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)

Antisense Oligonucleotide (AON)-based Therapy for Leber Congenital Amaurosis Caused by a Frequent Mutation in CEP290
por: Collin, Rob WJ, et al.
Publicado: (2012)

Unexpected CEP290 mRNA Splicing in a Humanized Knock-In Mouse Model for Leber Congenital Amaurosis
por: Garanto, Alejandro, et al.
Publicado: (2013)

Spectrum of Disease Severity in Nonsyndromic Patients With Mutations in the CEP290 Gene: A Multicentric Longitudinal Study
por: Testa, Francesco, et al.
Publicado: (2021)

LEBER CONGENITAL AMAUROSIS DUE TO CEP290 MUTATIONS—SEVERE VISION IMPAIRMENT WITH A HIGH UNMET MEDICAL NEED: A Review
por: Leroy, Bart P., et al.
Publicado: (2021)

AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Common Leber Congenital Amaurosis CEP290 Mutation
por: Gerard, Xavier, et al.
Publicado: (2012)

Leber Congenital Amaurosis Associated with Mutations in CEP290, Clinical Phenotype, and Natural History in Preparation for Trials of Novel Therapies
por: Sheck, Leo, et al.
Publicado: (2018)

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

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

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

Gene Therapy Using a miniCEP290 Fragment Delays Photoreceptor Degeneration in a Mouse Model of Leber Congenital Amaurosis
por: Zhang, Wei, et al.
Publicado: (2018)

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

Mutation in the Zebrafish cct2 Gene Leads to Abnormalities of Cell Cycle and Cell Death in the Retina: A Model of CCT2-Related Leber Congenital Amaurosis
por: Minegishi, Yuriko, et al.
Publicado: (2018)

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)

Antisense Oligonucleotide-Based Splicing Correction in Individuals with Leber Congenital Amaurosis due to Compound Heterozygosity for the c.2991+1655A>G Mutation in CEP290
por: Duijkers, Lonneke, et al.
Publicado: (2018)

Local Abundance of Macular Xanthophyll Pigment Is Associated with Rod- and Cone-Mediated Vision in Aging and Age-Related Macular Degeneration
por: Kar, Deepayan, et al.
Publicado: (2020)

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

Reduced foveal cone density in early idiopathic macular telangiectasia
por: Song, Hongxin, et al.
Publicado: (2021)

Intravitreal antisense oligonucleotide sepofarsen in Leber congenital amaurosis type 10: a phase 1b/2 trial
por: Russell, Stephen R., et al.
Publicado: (2022)

Assessment of Scotopic Function in Rod–Cone Inherited Retinal Degeneration With the Scotopic Macular Integrity Assessment
por: Jolly, Jasleen K., et al.
Publicado: (2023)

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

Cone Photoreceptor Irregularity on Adaptive Optics Scanning Laser Ophthalmoscopy Correlates With Severity of Diabetic Retinopathy and Macular Edema
por: Lammer, Jan, et al.
Publicado: (2016)

Imaging Lenticular Autofluorescence in Older Subjects
por: Charng, Jason, et al.
Publicado: (2017)

An early onset cone dystrophy due to CEP290 mutation: a case report
por: Binder, Anastasia, et al.
Publicado: (2023)

Enhanced S-Cone Syndrome: Elevated Cone Counts Confer Supernormal Visual Acuity in the S-Cone Pathway
por: Wang, Yiyi, et al.
Publicado: (2023)

Foveal Cone Structure in Patients With Blue Cone Monochromacy
por: Patterson, Emily J., et al.
Publicado: (2022)

Homozygous Knockout of Cep250 Leads to a Relatively Late-Onset Retinal Degeneration and Sensorineural Hearing Loss in Mice
por: Abu-Diab, Alaa, et al.
Publicado: (2023)

Alternative splicing in CEP290 mutant cats results in a milder phenotype than LCA (CEP290) patients
por: Minella, Andrea L., et al.
Publicado: (2022)

Residual Cone Structure in Patients With X-Linked Cone Opsin Mutations
por: Patterson, Emily J., et al.
Publicado: (2018)

Cone ERG Changes During Light Adaptation in Two All-Cone Mutant Mice: Implications for Rod-Cone Pathway Interactions
por: Bush, Ronald A., et al.
Publicado: (2019)

Comparing vision and macular thickness in neovascular age-related macular degeneration, diabetic macular oedema and retinal vein occlusion patients treated with intravitreal antivascular endothelial growth factor injections in clinical practice
por: Gurung, Rajya L, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_k5fdo1lj82ip3rpvvcse9cn173