fundus albipunctatus

Summary
Synonym
  • Pigmentary retinal dystrophy
  • retinitis punctata albescens
Definition
A fundus dystrophy that is characterized by discrete uniform white dots over the entire fundus with greatest density in the midperiphery and no macular involvement.
Super Class
fundus dystrophy
External Links
Disease Ontology
DOID:11105
Mondo Disease Ontology
MeSH
UMLS
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying entries 41 - 50 of 64 in total
Gene ID Gene Symbol Description Source
8867 SYNJ1 synaptojanin 1
9126 SMC3 structural maintenance of chromosomes 3
9215 LARGE1 LARGE xylosyl- and glucuronyltransferase 1
9365 KL klotho
10585 POMT1 protein O-mannosyltransferase 1
10908 PNPLA6 patatin like phospholipase domain containing 6
23423 TMED3 transmembrane p24 trafficking protein 3
23600 AMACR alpha-methylacyl-CoA racemase
25839 COG4 component of oligomeric golgi complex 4
29925 GMPPB GDP-mannose pyrophosphorylase B

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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