vitelliform macular dystrophy 2
Findings
No curated finding names vitelliform macular dystrophy 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Best vitelliform macular dystrophy (BVMD) is a genetic macular dystrophy characterized by loss of central visual acuity, metamorphopsia and a decrease in the Arden ratio secondary to an egg yolk-like lesion located in the foveal or parafoveal region.
Definition from the Mondo Disease Ontology (MONDO:0007931), read 2026-09-29. CC BY 4.0.
Features
6 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.
- Cystoid macular degenerationHPOHP:0008028
- Very frequent (80% to 99% of cases)
- MetamorphopsiaHPOHP:0012508
- Very frequent (80% to 99% of cases)
- Visual impairmentHPOHP:0000505
- Very frequent (80% to 99% of cases)
- Color vision defectHPOHP:0000551
- Frequent (30% to 79% of cases)
- Chorioretinal scalloped atrophyHPOHP:0001139
- Occasional (5% to 29% of cases)
- Visual field defectHPOHP:0001123
- Occasional (5% to 29% of cases)
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 · Ambry Genetics · Autosomal dominant · 2016
- Definitive · G2P · Autosomal dominant · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
14 names
Resolves to: vitelliform macular dystrophy 2
- Also called
- Best diseaseBest macular dystrophyBest Vitelliform Macular DystrophyBEST1 retinopathyBMDBVMDearly-onset vitelliform macular dystrophyjuvenile-onset vitelliform macular dystrophymacular degeneration, polymorphic vitellinemacular dystrophy, vitelliform, type 2polymorphic vitelline macular degenerationvitelliform macular dystrophy type 2vitelliform macular dystrophy, early-onsetvitelliform macular dystrophy, juvenile-onset