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Incomplete congenital stationary night blindness

MedGen UID:
892632
•Concept ID:
C4073107
•
Disease or Syndrome
HPO: HP:0030641

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVIncomplete 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
Genotype-phenotype correlation in British families with X linked congenital stationary night blindness.
Allen LE, Zito I, Bradshaw K, Patel RJ, Bird AC, Fitzke F, Yates JR, Trump D, Hardcastle AJ, Moore AT
Br J Ophthalmol 2003 Nov;87(11):1413-20. doi: 10.1136/bjo.87.11.1413. PMID: 14609846Free PMC Article

Recent clinical studies

Etiology

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
An Ashkenazi Jewish founder mutation in CACNA1F causes retinal phenotype in both hemizygous males and heterozygous female carriers.
Kimchi A, Meiner V, Silverstein S, Macarov M, Mor-Shaked H, Blumenfeld A, Audo I, Zeitz C, Mechoulam H, Banin E, Sharon D, Yahalom C
Ophthalmic Genet 2019 Oct;40(5):443-448. Epub 2019 Oct 25 doi: 10.1080/13816810.2019.1681008. PMID: 31651202
Three cases of acute-onset bilateral photophobia.
Ueno S, Inooka D, Meinert M, Ito Y, Tsunoda K, Fujinami K, Iwata T, Ohde H, Terasaki H
Jpn J Ophthalmol 2019 Mar;63(2):172-180. Epub 2019 Jan 2 doi: 10.1007/s10384-018-00649-0. PMID: 30604114
Clinical Characteristics, Mutation Spectrum, and Prevalence of Åland Eye Disease/Incomplete Congenital Stationary Night Blindness in Denmark.
Hove MN, Kilic-Biyik KZ, Trotter A, Grønskov K, Sander B, Larsen M, Carroll J, Bech-Hansen T, Rosenberg T
Invest Ophthalmol Vis Sci 2016 Dec 1;57(15):6861-6869. doi: 10.1167/iovs.16-19445. PMID: 28002560Free PMC Article
Autofluorescence imaging and spectral-domain optical coherence tomography in incomplete congenital stationary night blindness and comparison with retinitis pigmentosa.
Chen RW, Greenberg JP, Lazow MA, Ramachandran R, Lima LH, Hwang JC, Schubert C, Braunstein A, Allikmets R, Tsang SH
Am J Ophthalmol 2012 Jan;153(1):143-54.e2. Epub 2011 Sep 13 doi: 10.1016/j.ajo.2011.06.018. PMID: 21920492Free PMC Article

Diagnosis

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
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
Three cases of acute-onset bilateral photophobia.
Ueno S, Inooka D, Meinert M, Ito Y, Tsunoda K, Fujinami K, Iwata T, Ohde H, Terasaki H
Jpn J Ophthalmol 2019 Mar;63(2):172-180. Epub 2019 Jan 2 doi: 10.1007/s10384-018-00649-0. PMID: 30604114
ISCEV extended protocol for the photopic On-Off ERG.
Sustar M, Holder GE, Kremers J, Barnes CS, Lei B, Khan NW, Robson AG
Doc Ophthalmol 2018 Jun;136(3):199-206. Epub 2018 Jun 22 doi: 10.1007/s10633-018-9645-y. PMID: 29934802Free PMC Article
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

Electroretinographic abnormalities associated with pregabalin: a case report.
Ninomiya W, Mizobuchi K, Hayashi T, Okude S, Katagiri S, Kubo A, Masuhara N, Nakano T
Doc Ophthalmol 2020 Jun;140(3):279-287. Epub 2020 Jan 3 doi: 10.1007/s10633-019-09743-1. PMID: 31900741

Prognosis

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
Two novel CACNA1F gene mutations cause two different phenotypes: Aland Eye Disease and incomplete Congenital Stationary Night Blindness.
Mihalich A, Cammarata G, Tremolada G, Pollazzon M, Di Blasio AM, Marzoli SB
Exp Eye Res 2022 Aug;221:109143. Epub 2022 Jun 11 doi: 10.1016/j.exer.2022.109143. PMID: 35697328
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
Three cases of acute-onset bilateral photophobia.
Ueno S, Inooka D, Meinert M, Ito Y, Tsunoda K, Fujinami K, Iwata T, Ohde H, Terasaki H
Jpn J Ophthalmol 2019 Mar;63(2):172-180. Epub 2019 Jan 2 doi: 10.1007/s10384-018-00649-0. PMID: 30604114
Clinical Characteristics, Mutation Spectrum, and Prevalence of Åland Eye Disease/Incomplete Congenital Stationary Night Blindness in Denmark.
Hove MN, Kilic-Biyik KZ, Trotter A, Grønskov K, Sander B, Larsen M, Carroll J, Bech-Hansen T, Rosenberg T
Invest Ophthalmol Vis Sci 2016 Dec 1;57(15):6861-6869. doi: 10.1167/iovs.16-19445. PMID: 28002560Free PMC Article

Clinical prediction guides

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
A Novel Splice-Site Variant in CACNA1F Causes a Phenotype Synonymous with Åland Island Eye Disease and Incomplete Congenital Stationary Night Blindness.
Mahmood U, Méjécase C, Ali SMA, Moosajee M, Kozak I
Genes (Basel) 2021 Jan 27;12(2) doi: 10.3390/genes12020171. PMID: 33513752Free PMC Article
Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement.
Mechaussier S, Almoallem B, Zeitz C, Van Schil K, Jeddawi L, Van Dorpe J, Dueñas Rey A, Condroyer C, Pelle O, Polak M, Boddaert N, Bahi-Buisson N, Cavallin M, Bacquet JL, Mouallem-Bézière A, Zambrowski O, Sahel JA, Audo I, Kaplan J, Rozet JM, De Baere E, Perrault I
Am J Hum Genet 2020 Jun 4;106(6):859-871. Epub 2020 May 28 doi: 10.1016/j.ajhg.2020.04.018. PMID: 32470375Free PMC Article
Clinical Characteristics, Mutation Spectrum, and Prevalence of Åland Eye Disease/Incomplete Congenital Stationary Night Blindness in Denmark.
Hove MN, Kilic-Biyik KZ, Trotter A, Grønskov K, Sander B, Larsen M, Carroll J, Bech-Hansen T, Rosenberg T
Invest Ophthalmol Vis Sci 2016 Dec 1;57(15):6861-6869. doi: 10.1167/iovs.16-19445. PMID: 28002560Free PMC Article
Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2.
Michalakis S, Shaltiel L, Sothilingam V, Koch S, Schludi V, Krause S, Zeitz C, Audo I, Lancelot ME, Hamel C, Meunier I, Preising MN, Friedburg C, Lorenz B, Zabouri N, Haverkamp S, Garcia Garrido M, Tanimoto N, Seeliger MW, Biel M, Wahl-Schott CA
Hum Mol Genet 2014 Mar 15;23(6):1538-50. Epub 2013 Oct 26 doi: 10.1093/hmg/ddt541. PMID: 24163243Free PMC Article

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