Details of Disease

General Information of Disease (ID: DISWIXVD)

• Disease Name: Patterned macular dystrophy
• Synonyms: macular dystrophy, patterned; 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.
• Disease Hierarchy:
  DIST5BD5: Patterned dystrophy of the retinal pigment epithelium
  DISLKKHD: Macular degeneration
  DISWIXVD: Patterned macular dystrophy

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CTNNA1	OTFC725Z	Supportive	Autosomal dominant	[1]
OTX2	OTTV05B1	Supportive	Autosomal dominant	[2]
PRPH2	OTNH2G5H	Supportive	Autosomal dominant	[3]

References

• [1] Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity. Nat Genet. 2016 Feb;48(2):144-51. doi: 10.1038/ng.3474. Epub 2015 Dec 21.
• [2] OTX2 mutations cause autosomal dominant pattern dystrophy of the retinal pigment epithelium. J Med Genet. 2014 Dec;51(12):797-805. doi: 10.1136/jmedgenet-2014-102620. Epub 2014 Oct 7.
• [3] Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene. Nat Genet. 1993 Mar;3(3):202-7. doi: 10.1038/ng0393-202.