adult-onset foveomacular vitelliform dystrophy
Findings
No curated finding names adult-onset foveomacular vitelliform dystrophy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0011979), read 2026-09-29. CC BY 4.0.
Features
9 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.
- Abnormality of the eyeHPOHP:0000478
- Very frequent (80% to 99% of cases)
- Abnormality of visionHPOHP:0000504
- Very frequent (80% to 99% of cases)
- Visual impairmentHPOHP:0000505
- Very frequent (80% to 99% of cases)
- Vitelliform macular lesionHPOHP:0007677
- Very frequent (80% to 99% of cases)
- Chorioretinal scalloped atrophyHPOHP:0001139
- Frequent (30% to 79% of cases)
- Color vision defectHPOHP:0000551
- Frequent (30% to 79% of cases)
- Iris hypopigmentationHPOHP:0007730
- Frequent (30% to 79% of cases)
- Visual field defectHPOHP:0001123
- Frequent (30% to 79% of cases)
- Retinal nonattachmentHPOHP:0007899
- Occasional (5% to 29% of cases)
Genes
4 genes
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.
Where it sits
- A kind of
Other names
9 names
Resolves to: adult-onset foveomacular vitelliform dystrophy
- Also called
- adult-onset foveomacular dystrophyadult-onset foveomacular dystrophy with choroidal neovascularizationadult-onset vitelliform macular dystrophyAOFMDAVMDGass diseasemacular dystrophy, vitelliform, type 3pseudo-Best diseasepseudo-vitelliform macular dystrophy