Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1981 1
1983 1
1990 1
1993 1
1994 1
2000 1
2002 2
2005 2
2006 1
2007 1
2009 1
2010 1
2011 1
2012 2
2013 3
2014 2
2015 1
2016 1
2017 3
2018 1
2019 3
2020 2
2021 1
2023 2
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

32 results

Results by year

Filters applied: . Clear all
Quoted phrase not found in phrase index: "Congenital stationary cone dysfunction"
Page 1
Congenital stationary night blindness: an update and review of the disease spectrum in Saudi Arabia.
Almutairi F, Almeshari N, Ahmad K, Magliyah MS, Schatz P. Almutairi F, et al. Acta Ophthalmol. 2021 Sep;99(6):581-591. doi: 10.1111/aos.14693. Epub 2020 Dec 26. Acta Ophthalmol. 2021. PMID: 33369259 Free article. Review.
Congenital stationary night blindness (CSNB) is a group of rare, mainly stationary disorders of the retina, resulting from dysfunction of several specific and essential visual processing mechanisms. ...Since a major review article on CSNB in 2015, whic …
Congenital stationary night blindness (CSNB) is a group of rare, mainly stationary disorders of the retina, resulting f …
Multimodal imaging in CABP4-related retinopathy.
Schatz P, Abdalla Elsayed MEA, Khan AO. Schatz P, et al. Ophthalmic Genet. 2017 Sep-Oct;38(5):459-464. doi: 10.1080/13816810.2017.1289543. Epub 2017 Mar 1. Ophthalmic Genet. 2017. PMID: 28635425
All patients presented with a negative electroretinogram, with a variable amount of cone and rod dysfunction. Over follow-up, there was no electroretinographic indication of any progressive retinal dysfunction. ...Retinal dysfunction was …
All patients presented with a negative electroretinogram, with a variable amount of cone and rod dysfunction. Over follow-up, …
Photoreceptor and postreceptor responses in congenital stationary night blindness.
Raghuram A, Hansen RM, Moskowitz A, Fulton AB. Raghuram A, et al. Invest Ophthalmol Vis Sci. 2013 Jul 10;54(7):4648-58. doi: 10.1167/iovs.13-12111. Invest Ophthalmol Vis Sci. 2013. PMID: 23761088 Free PMC article.
PURPOSE: To investigate photoreceptor and postreceptor retinal function in patients with congenital stationary night blindness (CSNB). ...Analysis of variance was used to compare data from patients with cCSNB, patients with iCSNB, and controls. RESULTS …
PURPOSE: To investigate photoreceptor and postreceptor retinal function in patients with congenital stationary n …
Electronegative Electroretinograms in the United Arab Emirates.
Alsalamah AK, Khan AO. Alsalamah AK, et al. Middle East Afr J Ophthalmol. 2020 Jul 20;27(2):86-90. doi: 10.4103/meajo.MEAJO_106_20. eCollection 2020 Apr-Jun. Middle East Afr J Ophthalmol. 2020. PMID: 32874040 Free PMC article.
PURPOSE: An electronegative electroretinogram (ERG), defined as having a b:a wave ratio 1 in the scotopic flash ERG response, indicates relative inner retinal dysfunction. Causes vary depending upon the study population. ...The mean age at presentation was 24 years …
PURPOSE: An electronegative electroretinogram (ERG), defined as having a b:a wave ratio 1 in the scotopic flash ERG response, indicates rela …
RPGRIP1-related retinal disease presenting as isolated cone dysfunction.
Khan AO. Khan AO. Ophthalmic Genet. 2023 Dec;44(6):595-597. doi: 10.1080/13816810.2023.2175224. Epub 2023 Feb 10. Ophthalmic Genet. 2023. PMID: 36762997
Follow-up for Family 2 showed stable retinal function (normal ERG scotopic tracings maintained at 12 and 21 years old) and thus a diagnosis of isolated cone dysfunction. CONCLUSIONS: Isolated cone dysfunction that progresses to pan-retinal …
Follow-up for Family 2 showed stable retinal function (normal ERG scotopic tracings maintained at 12 and 21 years old) and thus a dia …
Genotype and phenotype of 101 dutch patients with congenital stationary night blindness.
Bijveld MM, Florijn RJ, Bergen AA, van den Born LI, Kamermans M, Prick L, Riemslag FC, van Schooneveld MJ, Kappers AM, van Genderen MM. Bijveld MM, et al. Ophthalmology. 2013 Oct;120(10):2072-81. doi: 10.1016/j.ophtha.2013.03.002. Epub 2013 May 25. Ophthalmology. 2013. PMID: 23714322
OBJECTIVE: To investigate the relative frequency of the genetic causes of the Schubert-Bornschein type of congenital stationary night blindness (CSNB) and to determine the genotype-phenotype correlations in CSNB1 and CSNB2. ...Congenital stationary nig …
OBJECTIVE: To investigate the relative frequency of the genetic causes of the Schubert-Bornschein type of congenital stationary …
REPEATABILITY AND LONGITUDINAL ASSESSMENT OF FOVEAL CONE STRUCTURE IN CNGB3-ASSOCIATED ACHROMATOPSIA.
Langlo CS, Erker LR, Parker M, Patterson EJ, Higgins BP, Summerfelt P, Razeen MM, Collison FT, Fishman GA, Kay CN, Zhang J, Weleber RG, Yang P, Pennesi ME, Lam BL, Chulay JD, Dubra A, Hauswirth WW, Wilson DJ, Carroll J; ACHM-001 study group. Langlo CS, et al. Retina. 2017 Oct;37(10):1956-1966. doi: 10.1097/IAE.0000000000001434. Retina. 2017. PMID: 28145975 Free PMC article. Clinical Trial.
PURPOSE: Congenital achromatopsia is an autosomal recessive disease causing substantial reduction or complete absence of cone function. Although believed to be a relatively stationary disorder, questions remain regarding the stability of cone structure …
PURPOSE: Congenital achromatopsia is an autosomal recessive disease causing substantial reduction or complete absence of cone …
Long-term follow-up of retinal function and structure in TRPM1-associated complete congenital stationary night blindness.
Al-Hujaili H, Taskintuna I, Neuhaus C, Bergmann C, Schatz P. Al-Hujaili H, et al. Mol Vis. 2019 Dec 19;25:851-858. eCollection 2019. Mol Vis. 2019. PMID: 31908403 Free PMC article.
PURPOSE: TRPM1-associated congenital stationary night blindness (CSNB) is characterized by nystagmus and high myopia. ...The mechanism of myopia development in this condition remains incompletely understood; however, it may be related to altered retinal dopam …
PURPOSE: TRPM1-associated congenital stationary night blindness (CSNB) is characterized by nystagmus and high myopia. ...The m …
Genetic and Clinical Characterization of Danish Achromatopsia Patients.
Andersen MKG, Bertelsen M, Grønskov K, Kohl S, Kessel L. Andersen MKG, et al. Genes (Basel). 2023 Mar 10;14(3):690. doi: 10.3390/genes14030690. Genes (Basel). 2023. PMID: 36980963 Free PMC article.
Achromatopsia is a rare congenital condition with cone photoreceptor dysfunction causing color blindness, reduced vision, nystagmus and photophobia. ...The results indicate that myopia could be more frequently occurring with variants in GNAT2, PDE6C an …
Achromatopsia is a rare congenital condition with cone photoreceptor dysfunction causing color blindness, reduce …
Vitritis in pediatric genetic retinal disorders.
Stunkel M, Bhattarai S, Kemerley A, Stone EM, Wang K, Mullins RF, Drack AV. Stunkel M, et al. Ophthalmology. 2015 Jan;122(1):192-9. doi: 10.1016/j.ophtha.2014.07.037. Epub 2014 Sep 10. Ophthalmology. 2015. PMID: 25217415 Free PMC article.
The most frequent diagnoses without cells included congenital stationary night blindness (CSNB), LCA, Stargardt disease, and blue cone monochromacy. DISCUSSION: A nonrandom subset of pediatric retinal degenerations exhibit vitritis. Cells …
The most frequent diagnoses without cells included congenital stationary night blindness (CSNB), LCA, Stargardt disease …
32 results