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 51 - 60 of 64 in total
Gene ID Gene Symbol Description Source
29954 POMT2 protein O-mannosyltransferase 2
55624 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
55768 NGLY1 N-glycanase 1
57104 PNPLA2 patatin like phospholipase domain containing 2
60506 NYX nyctalopin
79071 ELOVL6 ELOVL fatty acid elongase 6
79087 ALG12 ALG12 alpha-1,6-mannosyltransferase
79147 FKRP fukutin related protein
79888 LPCAT1 lysophosphatidylcholine acyltransferase 1
79947 DHDDS dehydrodolichyl diphosphate synthase subunit

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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