Leber Congenital Amaurosis (LCA): Potential for Improvement of Vision

por Cideciyan, Artur V., Jacobson, Samuel G.
Publicado 2019

Macular Rod Function in Retinitis Pigmentosa Measured With Scotopic Microperimetry

por Krishnan, Arun K., Roman, Alejandro J., Swider, Malgorzata, Jacobson, Samuel G., Cideciyan, Artur V.
Publicado 2021

Outcome measure for the treatment of cone photoreceptor diseases: orientation to a scene with cone-only contrast

por Roman, Alejandro J., Cideciyan, Artur V., Matsui, Rodrigo, Sheplock, Rebecca, Schwartz, Sharon B., Jacobson, Samuel G.
Publicado 2015

Foveal Therapy in Blue Cone Monochromacy: Predictions of Visual Potential From Artificial Intelligence

por Sumaroka, Alexander, Cideciyan, Artur V., Sheplock, Rebecca, Wu, Vivian, Kohl, Susanne, Wissinger, Bernd, Jacobson, Samuel G.
Publicado 2020

Childhood-onset genetic cone-rod photoreceptor diseases and underlying pathobiology

por Garafalo, Alexandra V., Sheplock, Rebecca, Sumaroka, Alexander, Roman, Alejandro J., Cideciyan, Artur V., Jacobson, Samuel G.
Publicado 2021

Association of the Asn306Ser variant of the SP4 transcription factor and an intronic variant in the β-subunit of transducin with digenic disease

por Gao, Yong-Qing, Danciger, Michael, Özgül, Riza Köksal, Gribanova, Yekaterina E., Jacobson, Samuel G., Farber, Debora B.
Publicado 2007

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

por Jacobson, Samuel G, Cideciyan, Artur V, Aguirre, Gustavo D, Roman, Alejandro J, Sumaroka, Alexander, Hauswirth, William W, Palczewski, Krzysztof
Publicado 2015

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., Roman, Alejandro J., Jacobson, Samuel G., Yan, Boyuan, Pascolini, Michele, Charng, Jason, Pajaro, Simone, Nirenberg, Sheila
Publicado 2016

Rescue of Enzymatic Function for Disease-associated RPE65 Proteins Containing Various Missense Mutations in Non-active Sites

por Li, Songhua, Izumi, Tadahide, Hu, Jane, Jin, Heather H., Siddiqui, Ahmed-Abdul A., Jacobson, Samuel G., Bok, Dean, Jin, Minghao
Publicado 2014

Imaging Lenticular Autofluorescence in Older Subjects

por Charng, Jason, Tan, Rose, Luu, Chi D., Sadigh, Sam, Stambolian, Dwight, Guymer, Robyn H., Jacobson, Samuel G., Cideciyan, Artur V.
Publicado 2017

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

por Semenov, Evelyn P., Sheplock, Rebecca, Roman, Alejandro J., McGuigan, David B., Swider, Malgorzata, Cideciyan, Artur V., Jacobson, Samuel G.
Publicado 2020

A Novel ARL3 Gene Mutation Associated With Autosomal Dominant Retinal Degeneration

por Ratnapriya, Rinki, Jacobson, Samuel G., Cideciyan, Artur V., English, Milton A., Roman, Alejandro J., Sumaroka, Alexander, Sheplock, Rebecca, Swaroop, Anand
Publicado 2021

Mobility test to assess functional vision in dark-adapted patients with Leber congenital amaurosis

por Roman, Alejandro J., Cideciyan, Artur V., Wu, Vivian, Mascio, Abraham A., Krishnan, Arun K., Garafalo, Alexandra V., Jacobson, Samuel G.
Publicado 2022

Autosomal Dominant Retinitis Pigmentosa Due to Class B Rhodopsin Mutations: An Objective Outcome for Future Treatment Trials

por Sumaroka, Alexander, Cideciyan, Artur V., Charng, Jason, Wu, Vivian, Powers, Christian A., Iyer, Bhavya S., Lisi, Brianna, Swider, Malgorzata, Jacobson, Samuel G.
Publicado 2019

Postretinal Structure and Function in Severe Congenital Photoreceptor Blindness Caused by Mutations in the GUCY2D Gene

por Aguirre, Geoffrey K., Butt, Omar H., Datta, Ritobrato, Roman, Alejandro J., Sumaroka, Alexander, Schwartz, Sharon B., Cideciyan, Artur V., Jacobson, Samuel G.
Publicado 2017

CDHR1 mutations in retinal dystrophies

por Stingl, Katarina, Mayer, Anja K., Llavona, Pablo, Mulahasanovic, Lejla, Rudolph, Günther, Jacobson, Samuel G., Zrenner, Eberhart, Kohl, Susanne, Wissinger, Bernd, Weisschuh, Nicole
Publicado 2017

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

por Sumaroka, Alexander, Garafalo, Alexandra V., Semenov, Evelyn P., Sheplock, Rebecca, Krishnan, Arun K., Roman, Alejandro J., Jacobson, Samuel G., Cideciyan, Artur V.
Publicado 2019

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

por Charng, Jason, Jacobson, Samuel G., Heon, Elise, Roman, Alejandro J., McGuigan, David B., Sheplock, Rebecca, Kosyk, Mychajlo S., Swider, Malgorzata, Cideciyan, Artur V.
Publicado 2017

Leber Congenital Amaurosis Due to GUCY2D Mutations: Longitudinal Analysis of Retinal Structure and Visual Function

por Jacobson, Samuel G., Cideciyan, Artur V., Sumaroka, Alexander, Roman, Alejandro J., Wu, Vivian, Swider, Malgorzata, Sheplock, Rebecca, Krishnan, Arun K., Garafalo, Alexandra V.
Publicado 2021

Leber congenital amaurosis caused by Lebercilin (LCA5) mutation: Retained photoreceptors adjacent to retinal disorganization

por Jacobson, Samuel G., Aleman, Tomas S., Cideciyan, Artur V., Sumaroka, Alexander, Schwartz, Sharon B., Windsor, Elizabeth A.M., Swider, Malgorzata, Herrera, Waldo, Stone, Edwin M.
Publicado 2009