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Oguchi disease-1(CSNBO1)

MedGen UID:
1645330
•Concept ID:
C4551824
•
Disease or Syndrome
Synonym: Congenital stationary night blindness Oguchi type 1
 
Gene (location): SAG (2q37.1)
 
Monarch Initiative: MONDO:0009775
OMIM®: 258100

Definition

Any Oguchi disease in which the cause of the disease is a mutation in the SAG gene. [from MONDO]

Clinical features

From HPO
Congenital stationary night blindness
MedGen UID:
83289
•Concept ID:
C0339535
•
Congenital Abnormality
A nonprogressive (i.e., stationary) form of difficulties with night blindness with congenital onset.
See: Feature record | Search on this feature
Mizuo phenomenon
MedGen UID:
896050
•Concept ID:
C4280748
•
Finding
Change in the color of the fundus from red in the dark-adapted state to golden immediately or shortly after the onset of the light. The color of the fundus reflex in the light adapted state has also been described as golden-yellow, gray-white, and yellow-white. This reflex can appear either homogeneous or in streaks in the fundus. The retinal vessels appear to be protruding in contrast to the radiant background. Dark adaptation leads to disappearance of the unusual fundus coloration [Digital Journal of Ophthalmology 2008; Volume 14, Number 14].
See: Feature record | Search on this feature

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Congenital stationary night blindness: an analysis and update of genotype-phenotype correlations and pathogenic mechanisms.
Zeitz C, Robson AG, Audo I
Prog Retin Eye Res 2015 Mar;45:58-110. Epub 2014 Oct 13 doi: 10.1016/j.preteyeres.2014.09.001. PMID: 25307992

Recent clinical studies

Etiology

Electronegative Electroretinograms in the United Arab Emirates.
Alsalamah AK, Khan AO
Middle East Afr J Ophthalmol 2020 Apr-Jun;27(2):86-90. Epub 2020 Jul 20 doi: 10.4103/meajo.MEAJO_106_20. PMID: 32874040Free PMC Article
Phenotypic Features of Oguchi Disease and Retinitis Pigmentosa in Patients with S-Antigen Mutations: A Long-Term Follow-up Study.
Nishiguchi KM, Ikeda Y, Fujita K, Kunikata H, Akiho M, Hashimoto K, Hosono K, Kurata K, Koyanagi Y, Akiyama M, Suzuki T, Kawasaki R, Wada Y, Hotta Y, Sonoda KH, Murakami A, Nakazawa M, Nakazawa T, Abe T
Ophthalmology 2019 Nov;126(11):1557-1566. Epub 2019 Jun 6 doi: 10.1016/j.ophtha.2019.05.027. PMID: 31257036
Association of Retinal Artery and Other Inner Retinal Structures With Distribution of Tapetal-like Reflex in Oguchi's Disease.
Kato Y, Tsunoda K, Fujinami K, Iwata T, Saga M, Oguchi Y
Invest Ophthalmol Vis Sci 2015 Apr;56(4):2162-72. doi: 10.1167/iovs.14-16198. PMID: 25744976
Congenital stationary night blindness: an analysis and update of genotype-phenotype correlations and pathogenic mechanisms.
Zeitz C, Robson AG, Audo I
Prog Retin Eye Res 2015 Mar;45:58-110. Epub 2014 Oct 13 doi: 10.1016/j.preteyeres.2014.09.001. PMID: 25307992
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

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
Phenotypic Features of Oguchi Disease and Retinitis Pigmentosa in Patients with S-Antigen Mutations: A Long-Term Follow-up Study.
Nishiguchi KM, Ikeda Y, Fujita K, Kunikata H, Akiho M, Hashimoto K, Hosono K, Kurata K, Koyanagi Y, Akiyama M, Suzuki T, Kawasaki R, Wada Y, Hotta Y, Sonoda KH, Murakami A, Nakazawa M, Nakazawa T, Abe T
Ophthalmology 2019 Nov;126(11):1557-1566. Epub 2019 Jun 6 doi: 10.1016/j.ophtha.2019.05.027. PMID: 31257036
Mizuo-Nakamura Phenomena.
Mittal K, Chawla R
Ophthalmic Surg Lasers Imaging Retina 2016 Nov 1;47(11):1068. doi: 10.3928/23258160-20161031-14. PMID: 27842204
Congenital stationary night blindness: an analysis and update of genotype-phenotype correlations and pathogenic mechanisms.
Zeitz C, Robson AG, Audo I
Prog Retin Eye Res 2015 Mar;45:58-110. Epub 2014 Oct 13 doi: 10.1016/j.preteyeres.2014.09.001. PMID: 25307992
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

Light and inherited retinal degeneration.
Paskowitz DM, LaVail MM, Duncan JL
Br J Ophthalmol 2006 Aug;90(8):1060-6. Epub 2006 May 17 doi: 10.1136/bjo.2006.097436. PMID: 16707518Free PMC Article
Oguchi disease.
Kalpana S, Muthayya M, Doctor PP
J Postgrad Med 2006 Apr-Jun;52(2):143-4. PMID: 16679684

Prognosis

New variants and in silico analyses in GRK1 associated Oguchi disease.
Poulter JA, Gravett MSC, Taylor RL, Fujinami K, De Zaeytijd J, Bellingham J, Rehman AU, Hayashi T, Kondo M, Rehman A, Ansar M, Donnelly D, Toomes C, Ali M; UK Inherited Retinal Disease Consortium, Genomics England Research Consortium, De Baere E, Leroy BP, Davies NP, Henderson RH, Webster AR, Rivolta C, Zeitz C, Mahroo OA, Arno G, Black GCM, McKibbin M, Harris SA, Khan KN, Inglehearn CF
Hum Mutat 2021 Feb;42(2):164-176. Epub 2020 Nov 30 doi: 10.1002/humu.24140. PMID: 33252155Free PMC Article
Electronegative Electroretinograms in the United Arab Emirates.
Alsalamah AK, Khan AO
Middle East Afr J Ophthalmol 2020 Apr-Jun;27(2):86-90. Epub 2020 Jul 20 doi: 10.4103/meajo.MEAJO_106_20. PMID: 32874040Free PMC Article
Phenotypic Features of Oguchi Disease and Retinitis Pigmentosa in Patients with S-Antigen Mutations: A Long-Term Follow-up Study.
Nishiguchi KM, Ikeda Y, Fujita K, Kunikata H, Akiho M, Hashimoto K, Hosono K, Kurata K, Koyanagi Y, Akiyama M, Suzuki T, Kawasaki R, Wada Y, Hotta Y, Sonoda KH, Murakami A, Nakazawa M, Nakazawa T, Abe T
Ophthalmology 2019 Nov;126(11):1557-1566. Epub 2019 Jun 6 doi: 10.1016/j.ophtha.2019.05.027. PMID: 31257036
A Chinese family with Oguchi's disease due to compound heterozygosity including a novel deletion in the arrestin gene.
Huang L, Li W, Tang W, Zhu X, Ou-Yang P, Lu G
Mol Vis 2012;18:528-36. Epub 2012 Mar 1 PMID: 22419846Free PMC Article
Dark adaptation and the retinoid cycle of vision.
Lamb TD, Pugh EN Jr
Prog Retin Eye Res 2004 May;23(3):307-80. doi: 10.1016/j.preteyeres.2004.03.001. PMID: 15177205

Clinical prediction guides

New variants and in silico analyses in GRK1 associated Oguchi disease.
Poulter JA, Gravett MSC, Taylor RL, Fujinami K, De Zaeytijd J, Bellingham J, Rehman AU, Hayashi T, Kondo M, Rehman A, Ansar M, Donnelly D, Toomes C, Ali M; UK Inherited Retinal Disease Consortium, Genomics England Research Consortium, De Baere E, Leroy BP, Davies NP, Henderson RH, Webster AR, Rivolta C, Zeitz C, Mahroo OA, Arno G, Black GCM, McKibbin M, Harris SA, Khan KN, Inglehearn CF
Hum Mutat 2021 Feb;42(2):164-176. Epub 2020 Nov 30 doi: 10.1002/humu.24140. PMID: 33252155Free PMC Article
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
Phenotypic Features of Oguchi Disease and Retinitis Pigmentosa in Patients with S-Antigen Mutations: A Long-Term Follow-up Study.
Nishiguchi KM, Ikeda Y, Fujita K, Kunikata H, Akiho M, Hashimoto K, Hosono K, Kurata K, Koyanagi Y, Akiyama M, Suzuki T, Kawasaki R, Wada Y, Hotta Y, Sonoda KH, Murakami A, Nakazawa M, Nakazawa T, Abe T
Ophthalmology 2019 Nov;126(11):1557-1566. Epub 2019 Jun 6 doi: 10.1016/j.ophtha.2019.05.027. PMID: 31257036
Mizuo-Nakamura Phenomena.
Mittal K, Chawla R
Ophthalmic Surg Lasers Imaging Retina 2016 Nov 1;47(11):1068. doi: 10.3928/23258160-20161031-14. PMID: 27842204
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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