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Complete congenital stationary night blindness

MedGen UID:
881697
•Concept ID:
C4048798
•
Congenital Abnormality
Synonym: Night blindness, congenital stationary, complete
 
HPO: HP:0030640

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVComplete congenital stationary night blindness

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

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
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
Mol Vis 2019;25:851-858. Epub 2019 Dec 19 PMID: 31908403Free PMC Article
Assessing retinal structure in complete congenital stationary night blindness and Oguchi disease.
Godara P, Cooper RF, Sergouniotis PI, Diederichs MA, Streb MR, Genead MA, McAnany JJ, Webster AR, Moore AT, Dubis AM, Neitz M, Dubra A, Stone EM, Fishman GA, Han DP, Michaelides M, Carroll J
Am J Ophthalmol 2012 Dec;154(6):987-1001.e1. Epub 2012 Sep 7 doi: 10.1016/j.ajo.2012.06.003. PMID: 22959359Free PMC Article
Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans.
Li Z, Sergouniotis PI, Michaelides M, Mackay DS, Wright GA, Devery S, Moore AT, Holder GE, Robson AG, Webster AR
Am J Hum Genet 2009 Nov;85(5):711-9. Epub 2009 Oct 29 doi: 10.1016/j.ajhg.2009.10.003. PMID: 19878917Free PMC Article
The luminance-response function of the human photopic electroretinogram: a mathematical model.
Hamilton R, Bees MA, Chaplin CA, McCulloch DL
Vision Res 2007 Oct;47(23):2968-72. Epub 2007 Sep 24 doi: 10.1016/j.visres.2007.04.020. PMID: 17889925

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
Complete congenital stationary night blindness associated with a novel NYX variant (p.Asn216Lys) in middle-aged and older adult patients.
Hayashi T, Murakami Y, Mizobuchi K, Koyanagi Y, Sonoda KH, Nakano T
Ophthalmic Genet 2021 Aug;42(4):412-419. Epub 2021 Mar 26 doi: 10.1080/13816810.2021.1904422. PMID: 33769208
Novel biallelic TRPM1 variants in an elderly patient with complete congenital stationary night blindness.
Hayashi T, Mizobuchi K, Kikuchi S, Nakano T
Doc Ophthalmol 2021 Apr;142(2):265-273. Epub 2020 Oct 17 doi: 10.1007/s10633-020-09798-5. PMID: 33068213
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
Assessing retinal structure in complete congenital stationary night blindness and Oguchi disease.
Godara P, Cooper RF, Sergouniotis PI, Diederichs MA, Streb MR, Genead MA, McAnany JJ, Webster AR, Moore AT, Dubis AM, Neitz M, Dubra A, Stone EM, Fishman GA, Han DP, Michaelides M, Carroll J
Am J Ophthalmol 2012 Dec;154(6):987-1001.e1. Epub 2012 Sep 7 doi: 10.1016/j.ajo.2012.06.003. PMID: 22959359Free 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
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
Mol Vis 2019;25:851-858. Epub 2019 Dec 19 PMID: 31908403Free PMC Article
Novel frameshift mutation in NYX gene in a Russian family with complete congenital stationary night blindness.
Ivanova ME, Zolnikova IV, Gorgisheli KV, Atarshchikov DS, Ghosh P, Barh D
Ophthalmic Genet 2019 Dec;40(6):558-563. Epub 2019 Dec 11 doi: 10.1080/13816810.2019.1698617. PMID: 31826698
NYX mutations in four families with high myopia with or without CSNB1.
Zhou L, Li T, Song X, Li Y, Li H, Dan H
Mol Vis 2015;21:213-23. Epub 2015 Mar 5 PMID: 25802485Free PMC Article
Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness.
Zeitz C, Jacobson SG, Hamel CP, Bujakowska K, Neuillé M, Orhan E, Zanlonghi X, Lancelot ME, Michiels C, Schwartz SB, Bocquet B; Congenital Stationary Night Blindness Consortium, Antonio A, Audier C, Letexier M, Saraiva JP, Luu TD, Sennlaub F, Nguyen H, Poch O, Dollfus H, Lecompte O, Kohl S, Sahel JA, Bhattacharya SS, Audo I
Am J Hum Genet 2013 Jan 10;92(1):67-75. Epub 2012 Dec 13 doi: 10.1016/j.ajhg.2012.10.023. PMID: 23246293Free 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
NYX mutations in four families with high myopia with or without CSNB1.
Zhou L, Li T, Song X, Li Y, Li H, Dan H
Mol Vis 2015;21:213-23. Epub 2015 Mar 5 PMID: 25802485Free PMC Article
Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness.
Zeitz C, Jacobson SG, Hamel CP, Bujakowska K, Neuillé M, Orhan E, Zanlonghi X, Lancelot ME, Michiels C, Schwartz SB, Bocquet B; Congenital Stationary Night Blindness Consortium, Antonio A, Audier C, Letexier M, Saraiva JP, Luu TD, Sennlaub F, Nguyen H, Poch O, Dollfus H, Lecompte O, Kohl S, Sahel JA, Bhattacharya SS, Audo I
Am J Hum Genet 2013 Jan 10;92(1):67-75. Epub 2012 Dec 13 doi: 10.1016/j.ajhg.2012.10.023. PMID: 23246293Free PMC Article
Assessing retinal structure in complete congenital stationary night blindness and Oguchi disease.
Godara P, Cooper RF, Sergouniotis PI, Diederichs MA, Streb MR, Genead MA, McAnany JJ, Webster AR, Moore AT, Dubis AM, Neitz M, Dubra A, Stone EM, Fishman GA, Han DP, Michaelides M, Carroll J
Am J Ophthalmol 2012 Dec;154(6):987-1001.e1. Epub 2012 Sep 7 doi: 10.1016/j.ajo.2012.06.003. PMID: 22959359Free PMC Article
A distinctive form of congenital stationary night blindness with cone ON-pathway dysfunction.
Barnes CS, Alexander KR, Fishman GA
Ophthalmology 2002 Mar;109(3):575-83. doi: 10.1016/s0161-6420(01)00981-2. PMID: 11874764

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