Results 131 to 140 of about 9,513 (213)

Coats-like vasculopathy in RDH12 Leber congenital amaurosis. [PDF]

Eye (Lond)
Ramtohul P, Aziz A, David T.
europepmc   +1 more source

Real-world outcomes of voretigene neparvovec treatment in pediatric patients with RPE65-associated Leber congenital amaurosis. [PDF]

Graefes Arch Clin Exp Ophthalmol, 2022
Deng C, Zhao PY, Branham K, Schlegel D, Fahim AT, Jayasundera TK, Khan N, Besirli CG.   +7 more
europepmc   +1 more source

Minocycline treatment reduces the activation of mononuclear phagocytes and improves retinal function in a mouse model of Leber congenital amaurosis. [PDF]

Graefes Arch Clin Exp Ophthalmol
Bubis E, Sher I, Ketter-Katz H, Derzane E, Sennlaub F, Rotenstreich Y.   +5 more
europepmc   +1 more source

Preclinical studies in support of phase I/II clinical trials to treat <i>GUCY2D</i>-associated Leber congenital amaurosis. [PDF]

Mol Ther Methods Clin Dev, 2023
Boye SL, O'Riordan C, Morris J, Lukason M, Compton D, Baek R, Elmore DM, Peterson JJ, Fajardo D, McCullough KT, Scaria A, McVie-Wylie A, Boye SE.   +12 more
europepmc   +1 more source

Crx-L253X mutation produces dominant photoreceptor defects in TVRM65 mice [PDF]

, 2017
Chen, Shiming, Hennig, Anne K, Linne, Courtney D, Ruzycki, Philip A   +3 more
core   +2 more sources

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

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

Mol Ther
Chan YK.
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

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