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Congenital stationary night blindness with normal fundus

MedGen UID:
892940
•Concept ID:
C4073105
•
Disease or Syndrome
HPO: HP:0030638

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital stationary night blindness with normal fundus

Recent clinical studies

Etiology

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
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
Multimodal imaging in CABP4-related retinopathy.
Schatz P, Abdalla Elsayed MEA, Khan AO
Ophthalmic Genet 2017 Sep-Oct;38(5):459-464. Epub 2017 Mar 1 doi: 10.1080/13816810.2017.1289543. PMID: 28635425
Clinical characterisation of the CABP4-related retinal phenotype.
Khan AO, Alrashed M, Alkuraya FS
Br J Ophthalmol 2013 Mar;97(3):262-5. Epub 2012 Oct 25 doi: 10.1136/bjophthalmol-2012-302186. PMID: 23099293
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

Diagnosis

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
Genetic analysis and clinical features of three Chinese patients with Oguchi disease.
Wei X, Li H, Wu S, Zhu T, Sui R
Doc Ophthalmol 2023 Feb;146(1):17-32. Epub 2022 Nov 22 doi: 10.1007/s10633-022-09910-x. PMID: 36417138
Electronegative electroretinogram in the modern multimodal imaging era.
Sakti DH, Ali H, Korsakova M, Saakova N, Mustafic N, Fraser CL, Jamieson RV, Cornish EE, Grigg JR
Clin Exp Ophthalmol 2022 May;50(4):429-440. Epub 2022 Mar 8 doi: 10.1111/ceo.14065. PMID: 35212129Free PMC Article
Congenital stationary night blindness in a patient with mild learning disability due to a compound heterozygous microdeletion of 15q13 and a missense mutation in TRPM1.
Delle Fave M, Cordonnier M, Vallee L, Condroyer C, Zeitz C, Balikova I
Ophthalmic Genet 2021 Jun;42(3):296-299. Epub 2021 Mar 10 doi: 10.1080/13816810.2021.1897846. PMID: 33691579
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

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
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

Wide-field true-colour imaging and clinical characterization of a novel GRK1 mutation in Oguchi disease.
Ballios BG, Weisbrod D, Kohly R, Muni RH, Wright T, Yan P
Doc Ophthalmol 2020 Oct;141(2):181-185. Epub 2020 Mar 7 doi: 10.1007/s10633-020-09759-y. PMID: 32146548
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
Multimodal imaging in CABP4-related retinopathy.
Schatz P, Abdalla Elsayed MEA, Khan AO
Ophthalmic Genet 2017 Sep-Oct;38(5):459-464. Epub 2017 Mar 1 doi: 10.1080/13816810.2017.1289543. PMID: 28635425
Identification and functional characterization of a novel rhodopsin mutation associated with autosomal dominant CSNB.
Zeitz C, Gross AK, Leifert D, Kloeckener-Gruissem B, McAlear SD, Lemke J, Neidhardt J, Berger W
Invest Ophthalmol Vis Sci 2008 Sep;49(9):4105-14. Epub 2008 May 16 doi: 10.1167/iovs.08-1717. PMID: 18487375
Novel CACNA1F mutations in Japanese patients with incomplete congenital stationary night blindness.
Nakamura M, Ito S, Terasaki H, Miyake Y
Invest Ophthalmol Vis Sci 2001 Jun;42(7):1610-6. PMID: 11381068

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
Coexistence of GNAT1 and ABCA4 variants associated with Nougaret-type congenital stationary night blindness and childhood-onset cone-rod dystrophy.
Hayashi T, Hosono K, Kurata K, Katagiri S, Mizobuchi K, Ueno S, Kondo M, Nakano T, Hotta Y
Doc Ophthalmol 2020 Apr;140(2):147-157. Epub 2019 Oct 3 doi: 10.1007/s10633-019-09727-1. PMID: 31583501
Mutations in GRM6 identified in consanguineous Pakistani families with congenital stationary night blindness.
Naeem MA, Gottsch AD, Ullah I, Khan SN, Husnain T, Butt NH, Qazi ZA, Akram J, Riazuddin S, Ayyagari R, Hejtmancik JF, Riazuddin SA
Mol Vis 2015;21:1261-71. Epub 2015 Oct 31 PMID: 26628857Free 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
The electroretinographic diagnosis of the incomplete form of congenital stationary night blindness.
Tremblay F, Laroche RG, De Becker I
Vision Res 1995 Aug;35(16):2383-93. doi: 10.1016/0042-6989(95)00006-l. PMID: 7571473

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