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CSNB2B

MedGen UID:
355316
•Concept ID:
C1864877
•
Disease or Syndrome
Synonyms: CSNB, Incomplete, Autosomal Recessive; Night Blindness, Congenital Stationary, Incomplete, Autosomal Recessive; Night Blindness, Congenital Stationary, Type 2B

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
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: 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
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

Diagnosis

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
HIGH MYOPIA IS COMMON IN PATIENTS WITH X-LINKED RETINOPATHIES: Myopic Maculopathy Analysis.
Huang L, Lai Y, Sun L, Li S, Ding X
Retina 2024 Jan 1;44(1):117-126. doi: 10.1097/IAE.0000000000003934. PMID: 38117582
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
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
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
Comprehensive Geno- and Phenotyping in a Complex Pedigree Including Four Different Inherited Retinal Dystrophies.
Birtel J, Gliem M, Hess K, Birtel TH, Holz FG, Zechner U, Bolz HJ, Herrmann P
Genes (Basel) 2020 Jan 28;11(2) doi: 10.3390/genes11020137. PMID: 32013026Free PMC Article

Clinical prediction guides

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
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
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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