Details of Disease

General Information of Disease (ID: DISLYKY5)

Disease Name Oguchi disease
Synonyms stationary night blindness, Oguchi type; Oguchi syndrome; congenital stationary night blindness, Oguchi type; Oguchi disease
Definition Oguchi disease is an autosomal recessive retinal disorder characterized by congenital stationary night blindness and the Mizuo-Nakamura phenomenon.
Disease Hierarchy
DISGGL77: Inherited retinal dystrophy
DISLYKY5: Oguchi disease
Disease Identifiers
MONDO ID
MONDO_0019152
MESH ID
C537743
UMLS CUI
C1306122
MedGen ID
224927
Orphanet ID
75382
SNOMED CT ID
193687000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
CACNA1F TTJ0SO4 Strong Biomarker [1]
GUCY2D TTWNFC2 Strong Genetic Variation [2]
RHO TTH0KSX Strong Genetic Variation [3]
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This Disease Is Related to 1 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
RDH5 DESI4OK Strong Genetic Variation [4]
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This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SAG OTDNS3ZQ Supportive Autosomal recessive [5]
CERKL OTG4YGBR Strong Biomarker [6]
GRK7 OT083IH0 Strong Genetic Variation [7]
GRK1 OT7MPSG7 Definitive Autosomal recessive [8]
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References

1 A naturally-occurring mutation in Cacna1f in a rat model of congenital stationary night blindness.Mol Vis. 2008 Jan 9;14:20-8.
2 Expanded Retinal Disease Spectrum Associated With Autosomal Recessive Mutations in GUCY2D. Am J Ophthalmol. 2018 Jun;190:58-68. doi: 10.1016/j.ajo.2018.03.021. Epub 2018 Mar 17.
3 Characterization of Ribozymes Targeting a Congenital Night Blindness Mutation in Rhodopsin Mutation.Adv Exp Med Biol. 2016;854:509-15. doi: 10.1007/978-3-319-17121-0_68.
4 11-cis retinol dehydrogenase mutations as a major cause of the congenital night-blindness disorder known as fundus albipunctatus.Mol Vis. 1999 Dec 30;5:41.
5 Gene analysis and evaluation of the single founder effect in Japanese patients with Oguchi disease. Jpn J Ophthalmol. 2004 Jul-Aug;48(4):350-2. doi: 10.1007/s10384-004-0070-2.
6 Phenotypic Features of Oguchi Disease and Retinitis Pigmentosa in Patients with S-Antigen Mutations: A Long-Term Follow-up Study.Ophthalmology. 2019 Nov;126(11):1557-1566. doi: 10.1016/j.ophtha.2019.05.027. Epub 2019 Jun 6.
7 A novel homozygous GRK1 mutation (P391H) in 2 siblings with Oguchi disease with markedly reduced cone responses. Ophthalmology. 2007 Jan;114(1):134-41. doi: 10.1016/j.ophtha.2006.05.069. Epub 2006 Oct 27.
8 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.