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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
Nyctalopia
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: 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

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
Clinical and genetic findings in TRPM1-related congenital stationary night blindness.
Iosifidis C, Liu J, Gale T, Ellingford JM, Campbell C, Ingram S, Chandler K, Parry NRA, Black GC, Sergouniotis PI
Acta Ophthalmol 2022 Sep;100(6):e1332-e1339. Epub 2022 May 28 doi: 10.1111/aos.15186. PMID: 35633130
Optic Atrophy and Inner Retinal Thinning in CACNA1F-related Congenital Stationary Night Blindness.
Leahy KE, Wright T, Grudzinska Pechhacker MK, Audo I, Tumber A, Tavares E, MacDonald H, Locke J, VandenHoven C, Zeitz C, Heon E, Buncic JR, Vincent A
Genes (Basel) 2021 Feb 25;12(3) doi: 10.3390/genes12030330. PMID: 33668843Free 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

Diagnosis

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
Clinical and genetic findings in TRPM1-related congenital stationary night blindness.
Iosifidis C, Liu J, Gale T, Ellingford JM, Campbell C, Ingram S, Chandler K, Parry NRA, Black GC, Sergouniotis PI
Acta Ophthalmol 2022 Sep;100(6):e1332-e1339. Epub 2022 May 28 doi: 10.1111/aos.15186. PMID: 35633130
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

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: 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
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
Electronegative Electroretinograms in the United Arab Emirates.
Alsalamah AK, Khan AO
Middle East Afr J Ophthalmol 2020 Apr-Jun;27(2):86-90. Epub 2020 Jul 20 doi: 10.4103/meajo.MEAJO_106_20. PMID: 32874040Free 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
Spectrum of Cav1.4 dysfunction in congenital stationary night blindness type 2.
Burtscher V, Schicker K, Novikova E, Pöhn B, Stockner T, Kugler C, Singh A, Zeitz C, Lancelot ME, Audo I, Leroy BP, Freissmuth M, Herzig S, Matthes J, Koschak A
Biochim Biophys Acta 2014 Aug;1838(8):2053-65. Epub 2014 May 4 doi: 10.1016/j.bbamem.2014.04.023. PMID: 24796500Free PMC Article

Clinical prediction guides

Optic nerve involvement in CACNA1F-related disease: observations from a multicentric case series.
Marziali E, Van Den Broeck F, Bargiacchi S, Fortunato P, Caputo R, Sodi A, De Zaeytijd J, Murro V, Mucciolo DP, Giorgio D, Passerini I, Palazzo V, Peluso F, de Baere E, Zeitz C, Leroy BP, Secci J, Bacci GM
Ophthalmic Genet 2023 Apr;44(2):152-162. Epub 2022 Dec 5 doi: 10.1080/13816810.2022.2132514. PMID: 36469668
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
Macular sensitivity in patients with congenital stationary night-blindness.
William A, Kohl S, Zeitz C, Willmann G, Zrenner E, Bartz-Schmidt KU, Gekeler F, Schatz A
Br J Ophthalmol 2019 Oct;103(10):1507-1510. Epub 2018 Dec 20 doi: 10.1136/bjophthalmol-2018-313072. PMID: 30573500
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

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    • ClinVar
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      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
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