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MIRAGE
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
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O60840 | Voltage-dependent L-type calcium channel subunit alpha-1F | |
| Q02846 | Retinal guanylyl cyclase 1 | |
| Q7Z4N2 | Transient receptor potential cation channel subfamily M member 1 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| A6KP96 | Voltage-dependent L-type calcium channel subunit alpha |
