U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Night blindness, congenital stationary, type1i(CSNB1I)

MedGen UID:
1684817
•Concept ID:
C5231408
•
Disease or Syndrome
Synonym: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1I
 
Gene (location): GUCY2D (17p13.1)
 
Monarch Initiative: MONDO:0032811
OMIM®: 618555

Definition

Congenital stationary night blindness type 1I (CSNB1I) is characterized by night blindness from infancy or early childhood. Visual acuity is preserved, but some patients have color vision and/or visual field defects. Older patients may show retinitis pigmentosa-like retinal degeneration (Stunkel et al., 2018). [from OMIM]

Clinical features

From HPO
Night blindness
MedGen UID:
10349
•Concept ID:
C0028077
•
Disease or Syndrome
Inability to see well at night or in poor light.
See: Feature record | Search on this feature
Blue color blindness
MedGen UID:
57827
•Concept ID:
C0155017
•
Disease or Syndrome
Tritanopia is an autosomal dominant disorder of human vision characterized by a selective deficiency of blue spectral sensitivity (Weitz et al., 1992).
See: Feature record | Search on this feature

Professional guidelines

PubMed

Congenital Stationary Night Blindness: Structure, Function and Genotype-Phenotype Correlations in a Cohort of 122 Patients.
Katta M, de Guimaraes TAC, Fujinami-Yokokawa Y, Fujinami K, Georgiou M, Mahroo OA, Webster AR, Michaelides M
Ophthalmol Retina 2024 Sep;8(9):932-941. Epub 2024 Mar 24 doi: 10.1016/j.oret.2024.03.017. PMID: 38522615
Congenital stationary night blindness: an analysis and update of genotype-phenotype correlations and pathogenic mechanisms.
Zeitz C, Robson AG, Audo I
Prog Retin Eye Res 2015 Mar;45:58-110. Epub 2014 Oct 13 doi: 10.1016/j.preteyeres.2014.09.001. PMID: 25307992
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
Ophthalmology 2013 Oct;120(10):2072-81. Epub 2013 May 25 doi: 10.1016/j.ophtha.2013.03.002. PMID: 23714322

Recent clinical studies

Etiology

Congenital Stationary Night Blindness: Structure, Function and Genotype-Phenotype Correlations in a Cohort of 122 Patients.
Katta M, de Guimaraes TAC, Fujinami-Yokokawa Y, Fujinami K, Georgiou M, Mahroo OA, Webster AR, Michaelides M
Ophthalmol Retina 2024 Sep;8(9):932-941. Epub 2024 Mar 24 doi: 10.1016/j.oret.2024.03.017. PMID: 38522615
Clinical and genetic studies for a cohort of patients with congenital stationary night blindness.
Huang L, Bai X, Xie Y, Zhou Y, Wu J, Li N
Orphanet J Rare Dis 2024 Mar 6;19(1):101. doi: 10.1186/s13023-024-03091-3. PMID: 38448886Free PMC Article
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
Acta Ophthalmol 2021 Sep;99(6):581-591. Epub 2020 Dec 26 doi: 10.1111/aos.14693. PMID: 33369259
Congenital stationary night blindness: an analysis and update of genotype-phenotype correlations and pathogenic mechanisms.
Zeitz C, Robson AG, Audo I
Prog Retin Eye Res 2015 Mar;45:58-110. Epub 2014 Oct 13 doi: 10.1016/j.preteyeres.2014.09.001. PMID: 25307992
Congenital stationary night blindness: mutation update and clinical variability.
Lodha N, Loucks CM, Beaulieu C, Parboosingh JS, Bech-Hansen NT
Adv Exp Med Biol 2012;723:371-9. doi: 10.1007/978-1-4614-0631-0_48. PMID: 22183355

Diagnosis

A Case of Congenital Stationary Night Blindness in a Healthy Female Infant: Emphasis on Electroretinography.
Artemiev D, Todorova MG
Klin Monbl Augenheilkd 2024 Apr;241(4):529-532. Epub 2024 Apr 23 doi: 10.1055/a-2211-9248. PMID: 38653284
Congenital Stationary Night Blindness: Clinical and Genetic Features.
Kim AH, Liu PK, Chang YH, Kang EY, Wang HH, Chen N, Tseng YJ, Seo GH, Lee H, Liu L, Chao AN, Chen KJ, Hwang YS, Wu WC, Lai CC, Tsang SH, Hsiao MC, Wang NK
Int J Mol Sci 2022 Nov 29;23(23) doi: 10.3390/ijms232314965. PMID: 36499293Free PMC Article
SLC24A1-Associated Congenital Stationary Night Blindness in a Woman With an Abnormal Fundus.
Marques JP, Chaves J
JAMA Ophthalmol 2022 Apr 1;140(4):e216343. Epub 2022 Apr 21 doi: 10.1001/jamaophthalmol.2021.6343. PMID: 35446361
Mizuo Nakamura Phenomenon.
Kumar V
J Pediatr Ophthalmol Strabismus 2015 Sep-Oct;52(5):320. doi: 10.3928/01913913-20150819-06. PMID: 26431559
Congenital stationary night blindness: an analysis and update of genotype-phenotype correlations and pathogenic mechanisms.
Zeitz C, Robson AG, Audo I
Prog Retin Eye Res 2015 Mar;45:58-110. Epub 2014 Oct 13 doi: 10.1016/j.preteyeres.2014.09.001. PMID: 25307992

Therapy

The impact of ambient air pollutants on childhood respiratory system disease and the resulting disease burden: a time-series study.
Shen W, Li X, Fang Q, Li G, Xiao W, Wu Y, Liu J, Hu W, Lu H, Huang F
Int Arch Occup Environ Health 2023 Oct;96(8):1087-1100. Epub 2023 Jun 20 doi: 10.1007/s00420-023-01991-8. PMID: 37338586
Clinical characteristics and current therapies for inherited retinal degenerations.
Sahel JA, Marazova K, Audo I
Cold Spring Harb Perspect Med 2014 Oct 16;5(2):a017111. doi: 10.1101/cshperspect.a017111. PMID: 25324231Free PMC Article
Night myopia studied with an adaptive optics visual analyzer.
Artal P, Schwarz C, Cánovas C, Mira-Agudelo A
PLoS One 2012;7(7):e40239. Epub 2012 Jul 2 doi: 10.1371/journal.pone.0040239. PMID: 22768343Free PMC Article

Prognosis

Congenital Stationary Night Blindness: Structure, Function and Genotype-Phenotype Correlations in a Cohort of 122 Patients.
Katta M, de Guimaraes TAC, Fujinami-Yokokawa Y, Fujinami K, Georgiou M, Mahroo OA, Webster AR, Michaelides M
Ophthalmol Retina 2024 Sep;8(9):932-941. Epub 2024 Mar 24 doi: 10.1016/j.oret.2024.03.017. PMID: 38522615
Congenital Stationary Night Blindness: Clinical and Genetic Features.
Kim AH, Liu PK, Chang YH, Kang EY, Wang HH, Chen N, Tseng YJ, Seo GH, Lee H, Liu L, Chao AN, Chen KJ, Hwang YS, Wu WC, Lai CC, Tsang SH, Hsiao MC, Wang NK
Int J Mol Sci 2022 Nov 29;23(23) doi: 10.3390/ijms232314965. PMID: 36499293Free PMC Article
Assessing the Pathogenicity of In-Frame CACNA1F Indel Variants Using Structural Modeling.
Sallah SR, Sergouniotis PI, Hardcastle C, Ramsden S, Lotery AJ, Lench N, Lovell SC, Black GCM
J Mol Diagn 2022 Dec;24(12):1232-1239. Epub 2022 Oct 1 doi: 10.1016/j.jmoldx.2022.09.005. PMID: 36191840
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
Acta Ophthalmol 2021 Sep;99(6):581-591. Epub 2020 Dec 26 doi: 10.1111/aos.14693. PMID: 33369259
Congenital stationary night blindness associated with morning glory disc malformation: a novel hemizygous mutation in CACNA1F.
Abdelkader E, AlHilali S, Neuhaus C, Bergmann C, AlMurshed T, Schatz P
Ophthalmic Genet 2018 Oct;39(5):659-661. Epub 2018 Aug 1 doi: 10.1080/13816810.2018.1498526. PMID: 30067413

Clinical prediction guides

Cryo-EM structure of human class C orphan GPCR GPR179 involved in visual processing.
Yun Y, Jeong H, Laboute T, Martemyanov KA, Lee HH
Nat Commun 2024 Sep 27;15(1):8299. doi: 10.1038/s41467-024-52584-z. PMID: 39333506Free PMC Article
The rod synapse in aging wildtype and Dscaml1 mutant mice.
Clemons MR, Dimico RH, Black C, Schlussler MK, Camerino MJ, Aldinger-Gibson K, Bartle A, Reynolds N, Eisenbrandt D, Rogers A, Andrianu J, Bruce B, Elliot A, Breazeal T, Griffin H, Murphy MK, Fuerst PG
PLoS One 2023;18(11):e0290257. Epub 2023 Nov 1 doi: 10.1371/journal.pone.0290257. PMID: 37910517Free PMC Article
Multimodal imaging in Schubert-Bornschein congenital stationary night blindness.
Parodi MB, Arrigo A, Rajabian F, Mansour A, Mercuri S, Starace V, Bordato A, Manitto MP, Martina E, Bandello F
Ophthalmic Genet 2023 Aug;44(4):408-413. Epub 2022 Oct 13 doi: 10.1080/13816810.2022.2135108. PMID: 36226416
Congenital Stationary Night Blindness: Clinical and Genetic Features.
Kim AH, Liu PK, Chang YH, Kang EY, Wang HH, Chen N, Tseng YJ, Seo GH, Lee H, Liu L, Chao AN, Chen KJ, Hwang YS, Wu WC, Lai CC, Tsang SH, Hsiao MC, Wang NK
Int J Mol Sci 2022 Nov 29;23(23) doi: 10.3390/ijms232314965. PMID: 36499293Free PMC Article
Presentation of TRPM1-Associated Congenital Stationary Night Blindness in Children.
Miraldi Utz V, Pfeifer W, Longmuir SQ, Olson RJ, Wang K, Drack AV
JAMA Ophthalmol 2018 Apr 1;136(4):389-398. doi: 10.1001/jamaophthalmol.2018.0185. PMID: 29522070Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...