congenital stationary night blindness

Summary
Synonym
  • 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.
Super Class
hereditary night blindness physical disorder
External Links
Disease Ontology
DOID:0050534
Mondo Disease Ontology
MeSH
UMLS
ORDO
OMIM
Related Genes
Displaying entries 11 - 12 of 12 in total
Gene ID Gene Symbol Description Source
93589 CACNA2D4 calcium voltage-gated channel auxiliary subunit alpha2delta 4
138050 HGSNAT heparan-alpha-glucosaminide N-acetyltransferase

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024