Details of Disease

General Information of Disease (ID: DISPYJN2)

• Disease Name: Adult-onset foveomacular vitelliform dystrophy
• Synonyms: macular dystrophy, vitelliform, 3; macular dystrophy, vitelliform, adult-onset; foveomacular dystrophy, adult-onset, with choroidal neovascularization; foveomacular dystrophy, adult-onset; AOFMD; VMD3; macular dystrophy, vitelliform, type 3; Gass disease; AVMD; adult-onset foveomacular dystrophy with choroidal neovascularization; pseudo-Best disease; AOFMD; pseudo-vitelliform macular dystrophy; adult-onset vitelliform macular dystrophy; adult-onset foveomacular dystrophy
• Definition: Adult-onset foveomacular vitelliform dystrophy (AOFVD) is a genetic macular dystrophy characterized by blurred vision, metamorphopsia and mild visual impairment secondary to a slightly elevated, yellow, egg yolk-like lesion located in the foveal or parafoveal region.
• Disease Hierarchy:
  DISEFYYN: Vitelliform macular dystrophy
  DISPYJN2: Adult-onset foveomacular vitelliform dystrophy
• Disease Identifiers:
  MONDO ID: MONDO_0011979
  MESH ID: D057826
  UMLS CUI: C1842914
  OMIM ID: 608161
  MedGen ID: 334280
  Orphanet ID: 99000
  SNOMED CT ID: 232049001

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
TST	TT51OTS	Strong	Genetic Variation	[1]

This Disease Is Related to 5 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
BEST1	OTWHE1ZC	Supportive	Autosomal dominant	[2]
IMPG1	OT12HBL0	Supportive	Autosomal dominant	[3]
IMPG2	OTFPSJ0T	Supportive	Autosomal dominant	[4]
PRPH2	OTNH2G5H	Supportive	Autosomal dominant	[5]
PRPH	OT6VUH78	Strong	Genetic Variation	[1]

References

• [1] Phenotypic intrafamilial variability associated with S212G mutation in the RDS/peripherin gene.Eur J Ophthalmol. 2007 Nov-Dec;17(6):1000-3. doi: 10.1177/112067210701700624.
• [2] Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degeneration. Eur J Hum Genet. 2000 Apr;8(4):286-92. doi: 10.1038/sj.ejhg.5200447.
• [3] Mutations in IMPG1 cause vitelliform macular dystrophies. Am J Hum Genet. 2013 Sep 5;93(3):571-8. doi: 10.1016/j.ajhg.2013.07.018. Epub 2013 Aug 29.
• [4] Frequency and clinical pattern of vitelliform macular dystrophy caused by mutations of interphotoreceptor matrix IMPG1 and IMPG2 genes. Ophthalmology. 2014 Dec;121(12):2406-14. doi: 10.1016/j.ophtha.2014.06.028. Epub 2014 Jul 29.
• [5] Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RDS gene. Hum Mutat. 1997;10(4):301-9. doi: 10.1002/(SICI)1098-1004(1997)10:4<301::AID-HUMU6>3.0.CO;2-J.