vitelliform macular dystrophy 4
Findings
No curated finding names vitelliform macular dystrophy 4 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 IMPG1 gene.
Definition from the Mondo Disease Ontology (MONDO:0014508), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Adult onset
HPO, annotations 2026-09-02
Features
5 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.
- Vitelliform macular lesionHPOHP:0007677
- 8 of 8 reported patients
- Decreased Arden ratio of electrooculogramHPOHP:0008179
- 7 of 8 reported patients
- Moderately reduced visual acuityHPOHP:0030515
- 5 of 8 reported patients
- DrusenHPOHP:0011510
- Macular dystrophyHPOHP:0007754
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.
- HGNC:6055HGNC:6055
- Definitive · G2P · Autosomal dominant · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
- Moderate · Laboratory for Molecular Medicine · Autosomal dominant · 2020
Where it sits
Other names
4 names
Resolves to: vitelliform macular dystrophy 4
- Also called
- IMPG1 vitelliform macular dystrophymacular dystrophy, vitelliform, 4macular dystrophy, vitelliform, type 4vitelliform macular dystrophy caused by mutation in IMPG1