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Metadata
ID DOID:0050534
Name congenital stationary night blindness
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.
http://disorders.eyes.arizona.edu/disorders/night-blindness-congenital-stationary-csnbad3, http://www.ncbi.nlm.nih.gov/books/NBK1245/, http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1772254/, http://www.omim.org/entry/610444, http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=215
Xrefs

ICD10CM:H53.63

ICD9CM:368.61

MESH:C537743

OMIM:PS310500

ORDO:215

SNOMEDCT_US_2020_09_01:193687000

UMLS_CUI:C1306122

Subsets

DO_rare_slim

Synonyms

congenital essential nyctalopia [EXACT]

Parent Relationships

is_a hereditary night blindness

is_a physical disorder

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