congenital stationary night blindness

Term ID

DOID:0050534

Synonyms

congenital essential nyctalopia

Definition

A hereditary night blindness that is characterized by hemeralopia with a moderate loss of visual acuity and caused by defective photoreceptor-to-bipolar cell signaling with common ERG findings of reduced or absent b-waves and generally normal a-waves. (5)

References

ICD10CM:H53.63
ICD9CM:368.61
MESH:C537743
OMIM:PS310500
ORDO:215
SNOMEDCT_US_2023_03_01:193687000
UMLS_CUI:C1306122

Ontology

Human Disease ( DOID:0050534 )

Relationships

is a type of: hereditary night blindness physical disorder

hereditary night blindness physical disorder Show first 5 Terms
has subtype: congenital stationary night blindness 1A congenital stationary night blindness 1B congenital stationary night blindness 1C congenital stationary night blindness 1D congenital stationary night blindness 1E ... Show All 14 Terms

congenital stationary night blindness 1A congenital stationary night blindness 1B congenital stationary night blindness 1C congenital stationary night blindness 1D congenital stationary night blindness 1E congenital stationary night blindness 1F congenital stationary night blindness 1G congenital stationary night blindness 1H congenital stationary night blindness 2A congenital stationary night blindness autosomal dominant 1 congenital stationary night blindness autosomal dominant 2 congenital stationary night blindness autosomal dominant 3 Oguchi disease-1 Oguchi disease-2 Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models

Citations