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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
Retinal findings in a patient of French ancestry with CABP4-related retinal disease.
Smirnov VM, Zeitz C, Soumittra N, Audo I, Defoort-Dhellemmes S
Doc Ophthalmol 2018 Apr;136(2):135-143. Epub 2018 Mar 10 doi: 10.1007/s10633-018-9629-y. PMID: 29525873
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 diagnoses that overlap with choroideremia.
Lee TK, McTaggart KE, Sieving PA, Heckenlively JR, Levin AV, Greenberg J, Weleber RG, Tong PY, Anhalt EF, Powell BR, MacDonald IM
Can J Ophthalmol 2003 Aug;38(5):364-72; quiz 372. doi: 10.1016/s0008-4182(03)80047-9. PMID: 12956277

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
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
Retinal findings in a patient of French ancestry with CABP4-related retinal disease.
Smirnov VM, Zeitz C, Soumittra N, Audo I, Defoort-Dhellemmes S
Doc Ophthalmol 2018 Apr;136(2):135-143. Epub 2018 Mar 10 doi: 10.1007/s10633-018-9629-y. PMID: 29525873
Clinical diagnoses that overlap with choroideremia.
Lee TK, McTaggart KE, Sieving PA, Heckenlively JR, Levin AV, Greenberg J, Weleber RG, Tong PY, Anhalt EF, Powell BR, MacDonald IM
Can J Ophthalmol 2003 Aug;38(5):364-72; quiz 372. doi: 10.1016/s0008-4182(03)80047-9. PMID: 12956277

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

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
The incidence of negative ERG in clinical practice.
Koh AH, Hogg CR, Holder GE
Doc Ophthalmol 2001 Jan;102(1):19-30. doi: 10.1023/a:1017586118749. PMID: 11475363
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
A homozygous 1-base pair deletion in the arrestin gene is a frequent cause of Oguchi disease in Japanese.
Fuchs S, Nakazawa M, Maw M, Tamai M, Oguchi Y, Gal A
Nat Genet 1995 Jul;10(3):360-2. doi: 10.1038/ng0795-360. PMID: 7670478

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
Retinal findings in a patient of French ancestry with CABP4-related retinal disease.
Smirnov VM, Zeitz C, Soumittra N, Audo I, Defoort-Dhellemmes S
Doc Ophthalmol 2018 Apr;136(2):135-143. Epub 2018 Mar 10 doi: 10.1007/s10633-018-9629-y. PMID: 29525873
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

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