Results 171 to 180 of about 12,927 (274)

Transient pupillary light reflex in CEP290- or NPHP5-associated Leber congenital amaurosis: Latency as a potential outcome measure of cone function

Vision Research, 2020
A. Krishnan, S. Jacobson, A. J. Roman, Bhavya S. Iyer, Alexandra V. Garafalo, E. Héon, A. Cideciyan   +6 more
semanticscholar   +1 more source

Rescue of cone function in cone-only Nphp5 knockout mouse model with Leber congenital amaurosis phenotype.

, 2018
Christin Hanke‐Gogokhia, Vince A. Chiodo, William W. Hauswirth, Jeanne M. Frederick, Wolfgang Baehr   +4 more
openalex   +1 more source

Hypomorphic mutations identified in the candidate Leber congenital amaurosis gene CLUAP1 [PDF]

, 2016
Zachry T. Soens, Yuanyuan Li, Li Zhao, Aiden Eblimit, Rachayata Dharmat, Yumei Li, Yiyun Chen, Mohammed Naqeeb, Norma Fajardo, Irma López, Zhaoxia Sun, Robert K. Koenekoop, Rui Chen   +12 more
openalex   +1 more source

Gene therapy reforms photoreceptor structure and restores vision in NPHP5-associated Leber congenital amaurosis. [PDF]

Mol Ther, 2021
Aguirre GD, Cideciyan AV, Dufour VL, Ripolles-García A, Sudharsan R, Swider M, Nikonov R, Iwabe S, Boye SL, Hauswirth WW, Jacobson SG, Beltran WA.   +11 more
europepmc   +1 more source

Leber congenital amaurosis: A clinical and genetic study from a tertiary eye care center. [PDF]

Indian J Ophthalmol
Upadhyaya A, Padhy SK, Teja N, Chattannavar G, Dutta S, Pochaboina V, Balasubramanian J, Kannabiran C, Takkar B, Bhate M, Jalali S, Parameswarappa DC.   +11 more
europepmc   +1 more source

Development of Novel Patient-Reported Outcome (PRO) and Observer-Reported Outcome (ObsRO) Instruments in Retinitis Pigmentosa (RP) and Leber Congenital Amaurosis (LCA): ViSIO-PRO and ViSIO-ObsRO. [PDF]

Ophthalmol Ther, 2023
Audo I, Patalano F, Naujoks C, Spera C, Fischer MD, Green J, Kay C, Durham T, Williamson N, Bradley H, Barclay M, Boparai K, Banhazi J.   +12 more
europepmc   +1 more source

Omics in Ophthalmology: Advances in Genomics and Precision Medicine for Leber Congenital Amaurosis and Age-Related Macular Degeneration

, 2016
Anneke I. den Hollander
openalex   +1 more source

A Novel <i>GUCY2D</i> Frameshift Deletion Identified in a Patient with Leber Congenital Amaurosis 1: A Case Report. [PDF]

Case Rep Ophthalmol
Zheng X, Gao Y, Wei T, Zhu L, Wang T, Wang B, Chen C, Liu Y, Yu Y.   +8 more
europepmc   +1 more source

Creating an in vitro Leber congenital amaurosis model to investigate disease mechanisms

, 2020
Kathleen R. Chirco, Shereen Chew, Jacque L. Duncan, Anthony T. Moore, Deepak A. Lamba   +4 more
openalex   +1 more source

Genetic ablation of Pals1 in retinal progenitor cells models the retinal pathology of Leber congenital amaurosis [PDF]

, 2012
Sang‐Heon Cho, Jin Young Kim, David L. Simons, J. Y. Song, Janet Le, Eric C. Swindell, Milan Jamrich, S. M. Wu, Sung Soo Kim   +8 more
openalex   +1 more source