raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:75382

Oguchi disease

Synonyms: Congenital stationary night blindness, Oguchi type · Oguchi syndrome

Type
Malformation syndrome
Group
Disorder
Inheritance
Autosomal recessive
Age of onset
Infancy, Neonatal
Status
active

Oguchi disease is an autosomal recessive retinal disorder characterized by congenital stationary night blindness and the Mizuo-Nakamura phenomenon.

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enOguchi diseaseCongenital stationary night blindness, Oguchi type · Oguchi syndrome
frMaladie d'OguchiCécité nocturne stationnaire congénitale type Oguchi · Syndrome d'Oguchi
deOguchi-KrankheitMorbus Oguchi · Oguchi-Syndrom · Stationäre Nachtblindheit, kongenitale, Typ Oguchi
esEnfermedad de OguchiCeguera nocturna estacionaria congénita tipo Oguchi · Síndrome de Oguchi
itMalattia di OguchiCecità notturna permanente congenita, tipo Oguchi · Sindrome di Oguchi
nlZiekte van OguchiCongenitale stationaire nachtblindheid, Oguchi-type · Oguchi's ziekte · Oguchisyndroom
ptDoença de OguchiCegueira noturna estacionária tipo Oguchi · Síndrome Oguchi
plChoroba OguchiegoWrodzona stacjonarna ślepota nocna, typ Oguchiego · Zespół Oguchiego
csOguchiho nemocOguchiho syndrom · Vrozená stacionární noční slepota, Oguchiho typ
ukХвороба ОгучіВроджена стаціонарна нічна сліпота, тип Огучі · Синдром Огучі
zh先天性夜盲症先天性静止性夜盲症，Oguchi型
trOguchi hastalığıOguchi sendromu · Doğumsal sabit gece körlüğü, Oguchi tipi

Definition in:

2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
OMIM258100BTNTvalidated
OMIM613411BTNTvalidated
ICD-10H53.6NTBTindexvalidated
ICD-119B70NTBTindexvalidated
MONDO0019152Evalidated
MeSHC537743Evalidated
UMLSC1306122Evalidated
GARD10118Evalidated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

3

Classification

Preferential parent (Orphanet linearisation):

Parents in the classifications (1):

No children.

4

Genes

2 direct
GeneAssociationStatusHGNCEnsemblOMIMLocusNameSource of validation
GRK1Disease-causing germline mutation(s) (loss of function) inAssessedHGNC:10013ENSG0000018597418038113q34G protein-coupled receptor kinase 19020843[PMID]_19753316[PMID]
SAGDisease-causing germline mutation(s) (loss of function) inAssessedHGNC:10521ENSG000001305611810312q37.1S-antigen visual arrestin15295660[PMID]_22419846[PMID]
5

Prevalence and incidence

2 records
TypeClassValueAreaQualificationValidationSource
Cases/families50 casesWorldwideCase(s)ValidatedORPHANET
Point prevalenceUnknown—WorldwideClass onlyValidatedORPHANET

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

6

HPO phenotypes

13 annotations · validated 2021-01-27
HPOTerm (as annotated by Orphanet)Diagnostic
Very frequent (99-80%)
HP:0007642Congenital stationary night blindness
HP:0007984Electronegative electroretinogram
HP:0030824Mizuo phenomenon
Occasional (29-5%)
HP:0000539Abnormality of refraction
HP:0000608Macular degeneration
HP:0000545Myopia
Very rare (<4-1%)
HP:0000651Diplopia
HP:0000639Nystagmus
HP:0000510Rod-cone dystrophy
HP:0000486Strabismus
HP:0000505Visual impairment
Excluded (0%)
HP:0007641Dyschromatopsia
HP:0001123Visual field defect

Run the differential on the 3 obligate / very frequent terms

Annotation source: 31257036[PMID]_31864474[PMID]_ 32146548[PMID]_32953689[PMID]_25307992[PMID]

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Sources for this card