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Published in 2022 at "JAMA ophthalmology"
DOI: 10.1001/jamaophthalmol.2022.4146
Abstract: Importance Congenital stationary night blindness (CSNB) is an inherited stationary retinal disorder that is clinically and genetically heterogeneous. To date, the genetic association between some cases with CSNB and an unusual complex clinical picture is…
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Keywords:
csnb;
congenital stationary;
night;
night blindness ... See more keywords
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Published in 2019 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.952
Abstract: The congenital stationary night blindness (CSNB) affects the patients' dim light vision or dark adaption by impairing the normal function of retina. It is a clinically and genetically heterogeneous disorder and can be inherited in…
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Keywords:
stationary night;
congenital stationary;
autosomal recessive;
night blindness ... See more keywords
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Published in 2022 at "Ophthalmic genetics"
DOI: 10.1080/13816810.2022.2135108
Abstract: BACKGROUND Schubert-Bornschein (SB) is the most common type of people with congenital stationary night blindness (CSNB). The aim of the study is to describe the optical coherence tomography (OCT) and optical coherence tomography angiography (OCTA)…
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Keywords:
multimodal imaging;
congenital stationary;
stationary night;
schubert bornschein ... See more keywords
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Published in 2020 at "Human molecular genetics"
DOI: 10.1093/hmg/ddaa008
Abstract: Rhodopsin is the G protein-coupled receptor in rod photoreceptor cells that initiates vision upon photon capture. The light receptor is normally locked in an inactive state in the dark by the covalently bound inverse agonist…
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Keywords:
rhodopsin;
constitutively active;
retinal degeneration;
night blindness ... See more keywords
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Published in 2022 at "Progress in Retinal and Eye Research"
DOI: 10.1111/j.1755-3768.2022.15380
Abstract: Myopia is the most common eye disorder, caused by heterogeneous genetic and environmental factors. Rare progressive and stationary inherited retinal disorders are often associated with high myopia. Genes implicated in myopia encode proteins involved in…
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Keywords:
complete congenital;
night blindness;
myopia;
congenital stationary ... See more keywords
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Published in 2022 at "BMJ Case Reports"
DOI: 10.1136/bcr-2021-247856
Abstract: Two male patients with known systemic disorders who presented with complaints of nyctalopia underwent a complete ophthalmic examination including electrophysiological evaluation and serum vitamin A (retinol) levels. A significant vitamin A deficiency was detected, supplementation…
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Keywords:
erg;
vitamin deficiency;
night blindness;
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Published in 2017 at "Case Reports in Ophthalmology"
DOI: 10.1159/000462961
Abstract: Background: This report describes a 45-year-old man with complete congenital stationary night blindness (CSNB1) who has been followed up for 38 years. Case: The patient first visited our hospital as a 7-year-old boy with a…
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Keywords:
clinical course;
congenital stationary;
night blindness;
stationary night ... See more keywords
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Published in 2023 at "Frontiers in Cell and Developmental Biology"
DOI: 10.3389/fcell.2023.1161548
Abstract: Pathogenic, generally loss-of-function, variants in CACNA1F, encoding the Cav1.4α1 calcium channel, underlie congenital stationary night blindness type 2 (CSNB2), a rare inherited retinal disorder associated with visual disability. To establish the underlying pathomechanism, we investigated…
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Keywords:
cav1;
stationary night;
night blindness;
congenital stationary ... See more keywords
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Published in 2022 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms232314965
Abstract: Congenital stationary night blindness (CSNB) is an inherited retinal disease (IRD) that causes night blindness in childhood with heterogeneous genetic, electrophysical, and clinical characteristics. The development of sequencing technologies and gene therapy have increased the…
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Keywords:
csnb;
night blindness;
etiology;
congenital stationary ... See more keywords