Results 151 to 160 of about 12,927 (274)

Reliability of Semiautomated Kinetic Perimetry (SKP) and Goldmann Kinetic Perimetry in Children and Adults With Retinal Dystrophies. [PDF]

, 2019
PurposeTo investigate the precision of visual fields (VFs) from semiautomated kinetic perimetry (SKP) on Octopus 900 perimeters, for children and adults with inherited retinal degenerations (IRDs).
Barnes, Claire S, Birch, David G, Bittner, Ava K, Dagnelie, Gislin, Koenekoop, Robert K, Schuchard, Ronald A, Wood, Leah   +6 more
core   +1 more source

Mouse Models of NMNAT1-Leber Congenital Amaurosis (LCA9) Recapitulate Key Features of the Human Disease [PDF]

, 2016
Scott H. Greenwald, Jeremy R. Charette, Magdalena Staniszewska, Lan Ying Shi, Steve D. M. Brown, Lisa Stone, Qin Liu, Wanda L. Hicks, Gayle B. Collin, Michael R. Bowl, Mark P. Krebs, Patsy M. Nishina, Eric A. Pierce   +12 more
openalex   +1 more source

Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations

, 2005
Ronald Roepman, Stef J.F. Letteboer, Heleen H. Arts, Sylvia E. C. van Beersum, Xinrong Lu, Elmar Krieger, Paulo A. Ferreira, Frans P.M. Cremers   +7 more
openalex   +1 more source

Psychometric Validation of the ViSIO-PRO and ViSIO-ObsRO in Retinitis Pigmentosa and Leber Congenital Amaurosis. [PDF]

Ophthalmol Ther, 2023
Fischer MD, Patalano F, Naujoks C, Banhazi J, Bouchet C, O'Brien P, Kay C, Green J, Durham T, Bradley H, Williamson N, Barclay M, Sims J, Audo I.   +13 more
europepmc   +1 more source

A novel deletion mutation in GUCY2D gene may be responsible for Leber congenital amaurosis-1 disease: A case report

, 2019
Ahmad Reza Salehi Chaleshtori, Masoud Garshasbi, Ali Salehi   +2 more
openalex   +1 more source

Cone-Rod Dystrophy Caused by a Novel Homozygous RPE65 Mutation in Leber Congenital Amaurosis

, 2014
Cecilia Jakobsson, Ihab Saad Othman, F Munier, Daniel F. Schorderet, Hana Abouzeid   +4 more
openalex   +2 more sources

Case Report: Severe Expressive Language Disorder of a Child with Laber\'s Congenital Amaurosis

Journal of Rehabilitation, 2001
A 4 years old blind boy with leber's congenital amaurosis was referred for his severe expressive language problems. There was a considerable discrepancy between receptive and expressive language capabilities in favor of receptive ones.
Fariba Yadegari, Seyyed Jalal Sadrosadat
doaj  

Genetic and Clinical Profile of Retinopathies Due to Disease-Causing Variants in Leber Congenital Amaurosis (LCA)-Associated Genes in a Large German Cohort. [PDF]

Int J Mol Sci, 2023
Zobor D, Brühwiler B, Zrenner E, Weisschuh N, Kohl S.   +4 more
europepmc   +1 more source

Differential Macular Morphology in Patients withRPE65-,CEP290-,GUCY2D-, andAIPL1-Related Leber Congenital Amaurosis [PDF]

, 2010
Sirichai Pasadhika, Gerald A. Fishman, Edwin M. Stone, Martin Lindeman, Ruth Zelkha, Irma López, Robert K. Koenekoop, Mahnaz Shahidi   +7 more
openalex   +1 more source

Targeted next generation sequencing reveals genetic defects underlying inherited retinal disease in Iranian families

Molecular Vision, 2019
Purpose: Inherited retinal diseases (IRDs) are clinically and genetically heterogeneous showing progressive retinal cell death which results in vision loss.
Naeimeh Tayebi, Oyediran Akinrinade, Muhammad Imran Khan, Arash Hejazifar, Alireza Dehghani, Frans P.M. Cremers, Mohammadreza Akhlaghi   +6 more
doaj