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In humans, loss of LRP5 function causes congenital blindness (pseudoglioma) (Gong et al., 2001).
Bennett, J. et al. AAV2 gene therapy readministration in three adults with congenital blindness.
Dr. Amedi and his colleagues ran functional M.R.I. scans on eight adults with congenital blindness as they read using Braille.
Amado, D. et al. Safety and efficacy of subretinal readministration of a viral vector in large animals to treat congenital blindness.
Connolly, A. C., Gleitman, L. R. & Thompson-Schill, S. L. Effect of congenital blindness on the semantic representation of some everyday concepts.
At right, in 2006, Yuri Ostrovsky, PhD '10, tested a patient named Abid on a shape perception task a few weeks after his surgery for congenital blindness.
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This report expands the phenotype of autosomal recessive mutations to congenital night blindness, which may slowly progress to mild retinitis pigmentosa.
Because the leopard complex is associated with congenital night blindness, which compromises a homozygote's ability to see in low-light conditions, researchers had assumed that such a trait would have disappeared in predomestic horse populations through negative selection.
cCSNB is a non-progressive retinal disease characterized by congenital night blindness with a moderate decrease in visual acuity and myopia [21]-[24] [21]-[24]
None of the participants had subjective visual complaints or a diagnosis of cataracts, macular degeneration, diabetic retinopathy, or congenital color blindness.
Rod sensitivity is compromised in many retinal pathologies like pigmentary retinopathy, rod-cone dystrophy, retinal telangiectasia, congenital night blindness, and central serous chorioretinitis.
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