Details of Disease

General Information of Disease (ID: DISE6D4P)

• Disease Name: Vitelliform macular dystrophy 3
• Synonyms: foveomacular dystrophy, adult-onset, with or without choroidal neovascularization; foveomacular dystrophy, adult-onset; macular dystrophy, vitelliform, 3; vitelliform macular dystrophy, adult-onset; VMD3; PRPH2 vitelliform macular dystrophy; vitelliform macular dystrophy caused by mutation in PRPH2
• Definition: Any vitelliform macular dystrophy in which the cause of the disease is a mutation in the PRPH2 gene.
• Disease Hierarchy:
  DISPYJN2: Adult-onset foveomacular vitelliform dystrophy
  DISEFYYN: Vitelliform macular dystrophy
  DISE6D4P: Vitelliform macular dystrophy 3

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PRPH2	OTNH2G5H	Strong	Autosomal dominant	[1]

References

• [1] [Phenotypic variation in a family affected by autosomal dominant retinal dystrophy caused by the Gly208Asp mutation in the RDS peripherin gene]. Med Clin (Barc). 2002 May 18;118(18):716. doi: 10.1016/s0025-7753(02)72505-0.