macular degeneration, early-onset
MONDO:0014501Mondo
Findings
No curated finding names macular degeneration, early-onset yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
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.
- Macular degenerationHPOHP:0000608
- 4 of 4 reported patients
- Choroidal neovascularizationHPOHP:0011506
- 1 of 4 reported patients · Young adult onset
- Abnormal skeletal morphologyHPOHP:0011842
- 0 of 4 reported patients
- Reduced visual acuityHPOHP:0007663
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.
- FBN2HGNC:3604
- Limited · Ambry Genetics · Autosomal dominant · 2023
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
- Limited · PanelApp Australia · Autosomal dominant · 2025