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 21 - 30 of 64 in total
Gene ID Gene Symbol Description Source
3099 HK2 hexokinase 2
3418 IDH2 isocitrate dehydrogenase (NADP(+)) 2
3419 IDH3A isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha
3420 IDH3B isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta
3612 IMPA1 inositol monophosphatase 1
4190 MDH1 malate dehydrogenase 1
4669 NAGLU N-acetyl-alpha-glucosaminidase
5160 PDHA1 pyruvate dehydrogenase E1 subunit alpha 1
5373 PMM2 phosphomannomutase 2
5621 PRNP prion protein (Kanno blood group)

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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