patterned macular dystrophy

Summary
Synonym
  • patterned dystrophy of retinal pigment epithelium
Definition
A macular degeneration characterized by abnormal accumulation of lipofuscin in the retinal pigment epithelium in a distinct pattern, patterns include; reticular ('fishnet-like'), macroreticular ('spider-shaped'), and butterfly-shaped.
Super Class
macular degeneration
Disease Ontology
DOID:0060863
Mondo Disease Ontology
ORDO
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
5961 PRPH2 peripherin 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
19133 Prph2 peripherin 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
25534 Prph2 peripherin 2
Displaying 1 entry
Gene ID Gene Symbol Description Source Organism
398002 prph2.S peripherin 2 (retinal degeneration, slow) S homeolog Xenopus laevis (African clawed frog)

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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: December 9, 2024