| 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 |
SNOMEDCT_US_2023_03_01:193687000 |
| Subsets |
DO_rare_slim |
| Synonyms |
congenital essential nyctalopia [EXACT] |
| Parent Relationships |
is_a hereditary night blindness is_a physical disorder |