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 31 - 40 of 64 in total
Gene ID Gene Symbol Description Source
5728 PTEN phosphatase and tensin homolog
6120 RPE ribulose-5-phosphate-3-epimerase
6389 SDHA succinate dehydrogenase complex flavoprotein subunit A
6390 SDHB succinate dehydrogenase complex iron sulfur subunit B
6392 SDHD succinate dehydrogenase complex subunit D
6441 SFTPD surfactant protein D
6448 SGSH N-sulfoglucosamine sulfohydrolase
6785 ELOVL4 ELOVL fatty acid elongase 4
8526 DGKE diacylglycerol kinase epsilon
8630 HSD17B6 hydroxysteroid 17-beta dehydrogenase 6

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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