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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
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: 38522615Free PMC Article
Panel-based genetic testing for inherited retinal disease screening 176 genes.
Sheck LHN, Esposti SD, Mahroo OA, Arno G, Pontikos N, Wright G, Webster AR, Khan KN, Michaelides M
Mol Genet Genomic Med 2021 Dec;9(12):e1663. Epub 2021 Mar 22 doi: 10.1002/mgg3.1663. PMID: 33749171Free PMC Article
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

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: 38522615Free PMC Article
Panel-based genetic testing for inherited retinal disease screening 176 genes.
Sheck LHN, Esposti SD, Mahroo OA, Arno G, Pontikos N, Wright G, Webster AR, Khan KN, Michaelides M
Mol Genet Genomic Med 2021 Dec;9(12):e1663. Epub 2021 Mar 22 doi: 10.1002/mgg3.1663. PMID: 33749171Free PMC Article
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
TRPM1.
Irie S, Furukawa T
Handb Exp Pharmacol 2014;222:387-402. doi: 10.1007/978-3-642-54215-2_15. PMID: 24756714
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

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
Panel-based genetic testing for inherited retinal disease screening 176 genes.
Sheck LHN, Esposti SD, Mahroo OA, Arno G, Pontikos N, Wright G, Webster AR, Khan KN, Michaelides M
Mol Genet Genomic Med 2021 Dec;9(12):e1663. Epub 2021 Mar 22 doi: 10.1002/mgg3.1663. PMID: 33749171Free PMC Article
The X-linked retinopathies: Physiological insights, pathogenic mechanisms, phenotypic features and novel therapies.
De Silva SR, Arno G, Robson AG, Fakin A, Pontikos N, Mohamed MD, Bird AC, Moore AT, Michaelides M, Webster AR, Mahroo OA
Prog Retin Eye Res 2021 May;82:100898. Epub 2020 Aug 26 doi: 10.1016/j.preteyeres.2020.100898. PMID: 32860923
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
L-type Ca2+ channels in Ca2+ channelopathies.
Striessnig J, Hoda JC, Koschak A, Zaghetto F, Müllner C, Sinnegger-Brauns MJ, Wild C, Watschinger K, Trockenbacher A, Pelster G
Biochem Biophys Res Commun 2004 Oct 1;322(4):1341-6. doi: 10.1016/j.bbrc.2004.08.039. PMID: 15336981

Therapy

The molecular and cellular basis of rhodopsin retinitis pigmentosa reveals potential strategies for therapy.
Athanasiou D, Aguila M, Bellingham J, Li W, McCulley C, Reeves PJ, Cheetham ME
Prog Retin Eye Res 2018 Jan;62:1-23. Epub 2017 Oct 16 doi: 10.1016/j.preteyeres.2017.10.002. PMID: 29042326Free PMC Article
Genomic DNA nanoparticles rescue rhodopsin-associated retinitis pigmentosa phenotype.
Han Z, Banworth MJ, Makkia R, Conley SM, Al-Ubaidi MR, Cooper MJ, Naash MI
FASEB J 2015 Jun;29(6):2535-44. Epub 2015 Feb 24 doi: 10.1096/fj.15-270363. PMID: 25713057Free PMC Article
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
Towards mutation-independent silencing of genes involved in retinal degeneration by RNA interference.
Cashman SM, Binkley EA, Kumar-Singh R
Gene Ther 2005 Aug;12(15):1223-8. doi: 10.1038/sj.gt.3302512. PMID: 15877050
Evaluation of the Night Vision Spectacles on patients with impaired night vision.
Friedburg C, Serey L, Sharpe LT, Trauzettel-Klosinski S, Zrenner E
Graefes Arch Clin Exp Ophthalmol 1999 Feb;237(2):125-36. doi: 10.1007/s004170050207. PMID: 9987629

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: 38522615Free PMC Article
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
Panel-based genetic testing for inherited retinal disease screening 176 genes.
Sheck LHN, Esposti SD, Mahroo OA, Arno G, Pontikos N, Wright G, Webster AR, Khan KN, Michaelides M
Mol Genet Genomic Med 2021 Dec;9(12):e1663. Epub 2021 Mar 22 doi: 10.1002/mgg3.1663. PMID: 33749171Free PMC Article
Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration.
Ma DJ, Lee HS, Kim K, Choi S, Jang I, Cho SH, Yoon CK, Lee EK, Yu HG
BMC Med Genomics 2021 Mar 10;14(1):74. doi: 10.1186/s12920-021-00874-6. PMID: 33691693Free PMC Article

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
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
Panel-based genetic testing for inherited retinal disease screening 176 genes.
Sheck LHN, Esposti SD, Mahroo OA, Arno G, Pontikos N, Wright G, Webster AR, Khan KN, Michaelides M
Mol Genet Genomic Med 2021 Dec;9(12):e1663. Epub 2021 Mar 22 doi: 10.1002/mgg3.1663. PMID: 33749171Free PMC Article
Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration.
Ma DJ, Lee HS, Kim K, Choi S, Jang I, Cho SH, Yoon CK, Lee EK, Yu HG
BMC Med Genomics 2021 Mar 10;14(1):74. doi: 10.1186/s12920-021-00874-6. PMID: 33691693Free PMC Article

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      Clinical tests in GTR
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      OMIM records containing genes associated with phenotypes registered in MedGen
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