Results 131 to 140 of about 266,209 (210)

Amaurosis congénita de Leber. Reporte de caso

, 2017
La amaurosis congénita de Leber es un desorden clínico, genético y heterogéneo caracterizado por una severa pérdida de la visión al nacimiento. Se presenta en un 10 a 18% de los casos de ceguera congénita.
Quintino Cintora, Elizabeth, López Morales, Patricia Marcela, Mendoza Rosas, Vicente   +2 more
core  

Gene therapy trial lights the way for patients with Leber congenital amaurosis 1. [PDF]

Mol Ther
Chan YK.
europepmc   +1 more source

A novel nonsense variant (c.1499C>G) in CRB1 caused Leber congenital amaurosis-8 in a Chinese family and a literature review. [PDF]

BMC Med Genomics, 2022
Duan W, Zhou T, Jiang H, Zhang M, Hu M, Zhang L.   +5 more
europepmc   +1 more source

Intravitreal antisense oligonucleotide sepofarsen in Leber congenital amaurosis type 10: a phase 1b/2 trial. [PDF]

Nat Med, 2022
Russell SR, Drack AV, Cideciyan AV, Jacobson SG, Leroy BP, Van Cauwenbergh C, Ho AC, Dumitrescu AV, Han IC, Martin M, Pfeifer WL, Sohn EH, Walshire J, Garafalo AV, Krishnan AK, Powers CA, Sumaroka A, Roman AJ, Vanhonsebrouck E, Jones E, Nerinckx F, De Zaeytijd J, Collin RWJ, Hoyng C, Adamson P, Cheetham ME, Schwartz MR, den Hollander W, Asmus F, Platenburg G, Rodman D, Girach A.   +31 more
europepmc   +1 more source

Leber′s congenital amaurosis with nephropathy.

Indian Journal of Ophthalmology, 1994
Sharma K, Sharma Raj, Elhence R, Gulati S, Kher V   +4 more
doaj  

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

Qualitative exploration of the visual function impairments and impacts on vision-dependent activities of daily living in Retinitis Pigmentosa and Leber Congenital Amaurosis: content validation of the ViSIO-PRO and ViSIO-ObsRO measures. [PDF]

J Patient Rep Outcomes, 2023
Kay C, Audo I, Naujoks C, Spera C, Fischer MD, Green J, Durham T, Williamson N, Bradley H, Barclay M, Sims J, Banhazi J, Patalano F.   +12 more
europepmc   +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

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

A Korean Patient With Leber Congenital Amaurosis and a Homozygous RPE65 Variant Originating From a Paternal Uniparental Isodisomy. [PDF]

Mol Genet Genomic Med
Lee H, Moon D, Khang R, Seo GH, Yoon CK, Park UC, Park KH, Lee EK.   +7 more
europepmc   +1 more source