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congenital stationary night blindness

Disease Summary
Associated Targets (16)
Tbio

11

Tchem

4

Tclin

1


Disease Ontology Description 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.
Mondo Term and Equivalent IDs
MONDO:0016293:  congenital stationary night blindness
ICD9:368.61: 
MESH:C536122: 
OMIMPS:310500: 
Orphanet:215: 
SCTID:232061009: