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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.
Features include very common findings: Abnormality of the eye, Abnormality of vision, Visual impairment, and Vitelliform-like macular lesions; and common findings: Color vision defect, Visual field defect, Choroideremia, and Iris hypopigmentation. 9 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Eyes | 6 | Abnormality of the eye, Abnormality of vision, Visual impairment |
Biomarker and diagnostic research for adult-onset foveomacular vitelliform dystrophy has been reported in the published literature.
Phenotype severity distribution: 4 very common features, 4 common features.
Estimated prevalence: Unknown (Unknown prevalence).
No clinical trials have been registered for adult-onset foveomacular vitelliform dystrophy.
125 publications have been identified in PubMed for adult-onset foveomacular vitelliform dystrophy. Research spans Epidemiology / Natural History (28%), Case Report / Case Series (25%), and Basic Science / Preclinical (17%).
Research Type | Count | % of Total |
|---|---|---|
Disease patterns and progression | 35 | 28% |
Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 9:48 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about adult-onset foveomacular vitelliform dystrophy
Patient case studies |
31 |
25% |
Laboratory research | 21 | 17% |
Research summaries | 19 | 15% |
Testing and diagnosis research | 11 | 9% |
Clinical study results | 7 | 6% |
New treatment approaches | 1 | 1% |
Polosa A (2026). [PMID: 41222609](https://pubmed.ncbi.nlm.nih.gov/41222609/). *Doc Ophthalmol*. [Case Report / Case Series]
Naushad SM (2026). [PMID: 41661225](https://pubmed.ncbi.nlm.nih.gov/41661225/). *Psychiatr Genet*. [Basic Science / Preclinical]
Bhattacharya S (2026). [PMID: 42193986](https://pubmed.ncbi.nlm.nih.gov/42193986/). *Biomolecules*. [Review / Meta-Analysis]
Van Buren E (2026). [PMID: 41476111](https://pubmed.ncbi.nlm.nih.gov/41476111/). *Nat Methods*. [Basic Science / Preclinical]
Voide N (2026). [PMID: 42008983](https://pubmed.ncbi.nlm.nih.gov/42008983/). *Klin Monbl Augenheilkd*. [Case Report / Case Series]
Hansen N (2026). [PMID: 41429986](https://pubmed.ncbi.nlm.nih.gov/41429986/). *Mol Psychiatry*. [Epidemiology / Natural History]
Wang J (2026). [PMID: 42239615](https://pubmed.ncbi.nlm.nih.gov/42239615/). *Case Rep Ophthalmol*. [Case Report / Case Series]
Demirel S (2026). [PMID: 42189785](https://pubmed.ncbi.nlm.nih.gov/42189785/). *Retina*. [Diagnostic / Biomarker]
Craig AT (2026). [PMID: 41746024](https://pubmed.ncbi.nlm.nih.gov/41746024/). *Trop Med Infect Dis*. [Basic Science / Preclinical]
Shmueli O (2026). [PMID: 41182355](https://pubmed.ncbi.nlm.nih.gov/41182355/). *Graefes Arch Clin Exp Ophthalmol*. [Clinical Trial Publication]
AI-curated news mentioning adult-onset foveomacular vitelliform dystrophy
Updated Sep 3, 2026
A comparative study highlights the clinical, structural, and vascular features of adult-onset foveomacular vitelliform dystrophy. The findings provide insights into the disease's characteristics, aiding in better understanding and potential future research directions.