vitelliform macular dystrophy 5
Findings
No curated finding names vitelliform macular dystrophy 5 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any vitelliform macular dystrophy in which the cause of the disease is a mutation in the IMPG2 gene.
Definition from the Mondo Disease Ontology (MONDO:0014509), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Late onset · Middle age onset · Young adult onset
HPO, annotations 2026-09-02
Features
4 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Reduced visual acuityHPOHP:0007663
- 8 of 8 reported patients
- Macular dystrophyHPOHP:0007754
- 1 of 2 reported patients
- Moderately reduced visual acuityHPOHP:0030515
- 1 of 2 reported patients
- Vitelliform macular lesionHPOHP:0007677
- 1 of 2 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- IMPG2HGNC:18362
- Definitive · G2P · Autosomal dominant · 2017
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2022
Where it sits
Other names
4 names
Resolves to: vitelliform macular dystrophy 5
- Also called
- IMPG2 vitelliform macular dystrophymacular dystrophy, vitelliform, 5macular dystrophy, vitelliform, type 5vitelliform macular dystrophy caused by mutation in IMPG2