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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

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
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
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
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
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

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
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
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
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
Lambert SR, Taylor D, Kriss A
Surv Ophthalmol 1989 Nov-Dec;34(3):173-86. doi: 10.1016/0039-6257(89)90101-x. PMID: 2694415

Therapy

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
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

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
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
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
Nakamura M, Ito S, Terasaki H, Miyake Y
Invest Ophthalmol Vis Sci 2001 Jun;42(7):1610-6. PMID: 11381068
Carr RE, Margolis S, Siegel IM
Am J Ophthalmol 1976 Oct;82(4):549-58. doi: 10.1016/0002-9394(76)90541-9. PMID: 1086061

Clinical prediction guides

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
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
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
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
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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