autosomal dominant vitreoretinochoroidopathy
Findings
No curated finding names autosomal dominant vitreoretinochoroidopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Autosomal dominant vitreoretinochoroidopathy (ADVIRC) is a genetic vitreous-retinal disease characterized by ocular developmental anomalies such as microcornea, a shallow anterior chamber, glaucoma and cataract. Abnormal chorioretinal pigmentation is present, usually lying between the vortex veins and the ora serrata for 360 degrees.
Definition from the Mondo Disease Ontology (MONDO:0008662), read 2026-09-29. CC BY 4.0.
- 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.
- MicrophthalmiaHPOHP:0000568
- Occasional (5% to 29% of cases) · Congenital onset
- Developmental cataractHPOHP:0000519
- Congenital onset
- MicrocorneaHPOHP:0000482
- Congenital onset
- Posterior staphylomaHPOHP:0030856
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.
- BEST1HGNC:12703
- Definitive · G2P · Autosomal dominant · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2018
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
1 name
Resolves to: autosomal dominant vitreoretinochoroidopathy
- Also called
- ADVIRC