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Night-Blindness 

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  1. Open Access 01-12-2024 | Night-Blindness | OriginalPaper

    Clinical and genetic studies for a cohort of patients with congenital stationary night blindness

    Congenital stationary night blindness (CSNB) refers to a group of inherited retinal disorders caused by defective signal processing from photoreceptor cells to the bipolar cells in the retina. It is generally characterized by impaired night

  2. 01-01-2022 | Night-Blindness

    Acquired night blindness due to rod dysfunction after long-term hemodialysis

    Acquired night blindness is a rare condition caused by various pathophysiologic changes. Some cases are known to be related to circulating autoantibodies against retinal antigens, as in cancer-associated retinopathy [ 1 ], melanoma-associated …

  3. 01-04-2021 | Night-Blindness | OriginalPaper

    Novel biallelic TRPM1 variants in an elderly patient with complete congenital stationary night blindness

    In 1952, Schubert and Bornschein [ 1 ] reported a form of congenital stationary night blindness (CSNB), a non-progressive retinal disorder, in which the scotopic electroretinographic a-wave was preserved but the b-wave was severely reduced …

  4. 01-12-2019 | Night-Blindness | OriginalPaper

    Late-onset night blindness with peripheral flecks accompanied by progressive trickle-like macular degeneration

    Night blindness with peripheral retinal flecks is often associated with an impairment of the retinoid cycle. In these cases, patients complain of night blindness, but the night vision recovers either partially or completely following prolonged …

  5. 01-04-2020 | Night-Blindness | OriginalPaper

    Coexistence of GNAT1 and ABCA4 variants associated with Nougaret-type congenital stationary night blindness and childhood-onset cone-rod dystrophy

    Congenital stationary night blindness (CSNB) is a group of clinically and genetically heterogeneous non-progressive retinal diseases. Nougaret-type CSNB with autosomal dominant inheritance is well described in a single large French family in which …

  6. Open Access 01-12-2016 | OriginalPaper

    Amyloid Precursor-Like Protein 2 deletion-induced retinal synaptopathy related to congenital stationary night blindness: structural, functional and molecular characteristics

    The amyloid precursor protein (APP) is known to play, together with its proteolytic fragments, numerous and varied roles in cell physiology and pathology, including in Alzheimer disease [ 1 – 4 ]. The amyloid precursor-like protein 2 (APLP2) …

  7. 01-06-2019 | Night-Blindness | OriginalPaper

    Disinhibition of intrinsic photosensitive retinal ganglion cells in patients with X-linked congenital stationary night blindness

    The pupillary light response (PLR) is defined as the constriction of the sphincter pupillae muscles in response to increasing ambient luminance. Incoming light induces an output from retinal cells to the pretectal olivary nucleus (PON) [ 1 , 2 ] …

  8. 01-08-2018 | Report

    Riggs-type dominant congenital stationary night blindness: ERG findings, a new GNAT1 mutation and a systemic association

    Congenital stationary night blindness (CSNB) is a non-progressive retinal disease characterized by absent night vision and occasionally other abnormalities such as mild visual loss, nystagmus, high myopia, and strabismus [ 1 ]. The disease can be …

  9. 01-10-2016 | OriginalPaper

    Congenital stationary night blindness with hypoplastic discs, negative electroretinogram and thinning of the inner nuclear layer

    Congenital stationary night blindness (CSNB) refers to a group of mainly non-progressive retinal disorders featuring night blindness due to mutations in genes affecting either retinoid metabolism in the retinal pigment epithelium, photoreceptor …

  10. 01-12-2015 | Report

    Recurrent episodes of night blindness in a patient with short bowel syndrome

    The combination of Bitot’s spots and night blindness should promptly direct the ophthalmologist to the suspicion of acquired vitamin A deficiency [ 1 – 3 ]. Fortunately, both findings are reversible when patient is adequately treated. Vitamin A is …

  11. 01-10-2014 | Report

    Night blindness and Crohn’s disease

    Signs of malnutrition are common clinical features in Crohn’s disease; and bowel resection, commonly needed in these cases, can aggravate malnutrition. These patients are at risk of developing vitamin A deficiency, which can lead to night

  12. 01-09-2009 | Report

    Vitamin A responsive night blindness in Dent’s disease

    Dent’s disease is an X-linked renal tubular disorder characterized by low molecular weight proteinuria, hypercalciuria and nephrocalcinosis or nephrolithiasis. The disease is caused by mutations in a renal chloride channel gene, CLCN5. We report …

  13. 01-07-2004 | OriginalPaper

    Photopic and scotopic VEPs in patients with congenital stationary night-blindness

    Extended set of visual evoked potentials (VEPs) using pattern-reversal (PREPs), linear motion-onset and radial (expansion) motion-onset stimuli (M-VEPs) (detailed specification at http:0 //www.lfhk.cuni.cz/elf) was used to verify congenital …

  14. 01-12-2009 | Report

    Fundus white spots and acquired night blindness due to vitamin A deficiency

    To report a successfully treated case of acquired night blindness associated with fundus white spots secondary to vitamin A deficiency. An ocular examination, electrophysiologic testing, as well as visual field and OCT examinations were obtained …

  15. 01-07-2003 | OriginalPaper

    A potential spontaneous rat model of X-linked congenital stationary night blindness

    Purpose: To describe a possible spontaneous rat model of X-linked congenital stationary night blindness (CSNB). Methods: Experimental animals were generated by mating the affected animal to normal rats, and from interbreeding littermates. To …

  16. 01-11-2006 | OriginalPaper

    Improvement of Scotopic Electroretinograms and Night Blindness with Recovery of Serum Zinc Levels

  17. 01-07-2005 | OriginalPaper

    Night Blindness with Depolarizing Pattern of ON/OFF Response in Electroretinogram: A Case Report

    Purpose: To present a patient who has night blindness with a depolarizing pattern of ON/OFF response by electroretinography (ERG). Case: A 43-year-old woman had had night blindness and poorly corrected visual acuity since childhood. Parental …

  18. 01-11-2005 | OriginalPaper

    Is Optic Nerve Fibre Mis-Routing a Feature of Congenital Stationary Night Blindness?

    Purpose: To determine whether patients with congenital stationary night blindness (CSNB) have electrophysiological evidence of optic nerve fibre mis-routing similar to that found in patients with ocular albinism (OA). Method: We recorded the …

  19. 01-05-2006 | Erratum

    Is optic never fibre mis-routing a feature of congenital stationary night blindness?

  20. 01-09-2003 | OriginalPaper

    ERGs in female carriers of incomplete Congenital Stationary Night Blindness (I-CSNB) A family report

    ERG findings in five sisters are reported. By pedigree analysis, four of the five must be obligate carriers for I-CSNB since their sons were affected (impaired night vision, reduced visual acuity, variable ametropia, congenital nystagmus and ERG …

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