| Identifier Type | Value/ID | Notes |
|---|---|---|
| Preferred disease name | BEST1-related dominant retinopathy | Umbrella term for autosomal-dominant BEST1-associated retinal disease, most commonly Best vitelliform macular dystrophy (BVMD/Best disease); other dominant phenotypes include adult-onset foveomacular vitelliform dystrophy (AOFVD/AVMD) and autosomal dominant vitreoretinochoroidopathy (ADVIRC) (pqac-00000001, pqac-00000003, pqac-00000004, pqac-00000006) |
| OMIM disease | 153700 | Best vitelliform macular dystrophy / Best disease; the common dominant BEST1 phenotype (pqac-00000003, pqac-00000004) |
| MONDO disease | MONDO_0007931 | Vitelliform macular dystrophy 2; Open Targets links this disease to BEST1 as the top associated target (pqac-00000000) |
| Orphanet disease | Orphanet_1243 | Best vitelliform macular dystrophy (pqac-00000000) |
| MeSH | D057826 | Vitelliform Macular Dystrophy; used in the ClinicalTrials.gov natural-history record for BEST1 VMD (pqac-00000041) |
| ICD-10 | Not uniquely established from retrieved evidence | BEST1-related dominant retinopathy/BVMD is generally grouped under hereditary retinal dystrophy/macular degeneration coding in practice; a disease-specific ICD-10 code was not confirmed in the retrieved sources |
| Gene symbol | BEST1 | HGNC-approved symbol for bestrophin 1; causative gene for dominant and recessive bestrophinopathies (pqac-00000000, pqac-00000001, pqac-00000003) |
| Gene OMIM | 607854 | BEST1 gene entry (formerly VMD2) (pqac-00000003) |
| Ensembl gene | ENSG00000167995 | Open Targets identifier for BEST1 (pqac-00000000) |
| Protein | Bestrophin-1 | 585-amino-acid, homopentameric calcium-activated chloride channel expressed in retinal pigment epithelium (RPE) (pqac-00000001, pqac-00000005, pqac-00000010) |
| Chromosomal locus | 11q13 / 11q12-q13.1 | BEST1 is reported at chromosome 11q13 in clinical literature; the interventional trial requires genetic confirmation on chromosome 11q12-q13.1 (pqac-00000017, pqac-00000042) |
| Related dominant phenotype | ADVIRC; OMIM 193220; MONDO_0008662 | Autosomal dominant vitreoretinochoroidopathy is another dominant BEST1-associated phenotype (pqac-00000003, pqac-00000000) |
| Related dominant phenotype | Adult-onset vitelliform macular dystrophy / AOFVD / AVMD | Adult-onset dominant vitelliform phenotype associated in some cases with BEST1 variants; typically presents after age 40 (pqac-00000003, pqac-00000006) |
| Related recessive phenotype | ARB; OMIM 611809; MONDO_0012733 | Autosomal recessive bestrophinopathy is part of the BEST1 disease spectrum but is not the dominant form (pqac-00000003, pqac-00000000) |
| Related phenotype | Retinitis pigmentosa 50; MONDO_0013175 | BEST1 is also associated with RP50 in curated disease-target resources (pqac-00000000) |
| Common synonym | Best disease | Widely used synonym for BVMD (pqac-00000003, pqac-00000004) |
| Common synonym | BVMD | Standard abbreviation for Best vitelliform macular dystrophy (pqac-00000001, pqac-00000004) |
| Common synonym | VMD / VMD2-associated disease | Historical nomenclature linked to vitelliform macular dystrophy and the former BEST1 name VMD2 (pqac-00000003, pqac-00000042) |
| Common synonym | Bestrophinopathy / BEST1-related bestrophinopathy | Collective term for the phenotypic spectrum caused by BEST1 variants (pqac-00000001, pqac-00000006) |
| Inheritance | Autosomal dominant with variable expressivity and incomplete/reduced penetrance | Characteristic for BVMD and several other dominant BEST1 phenotypes (pqac-00000002, pqac-00000004, pqac-00000017) |


*Table: This table compiles the main disease and gene identifiers used for BEST1-related dominant retinopathy, centered on Best vitelliform macular dystrophy. It also summarizes key synonyms, related BEST1 phenotypes, and inheritance details useful for database curation.*