ORPHA:1243
Best vitelliform macular dystrophy
Synonyms: BMD · BVMD · Best disease · Best macular dystrophy · Early-onset vitelliform macular dystrophy · Juvenile-onset vitelliform macular dystrophy · Polymorphic vitelline macular degeneration · Vitelliform macular dystrophy type 2
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Childhood
- Status
- active
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.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Best vitelliform macular dystrophy | BMD · BVMD · Best disease · Best macular dystrophy · Early-onset vitelliform macular dystrophy · Juvenile-onset vitelliform macular dystrophy · Polymorphic vitelline macular degeneration · Vitelliform macular dystrophy type 2 |
| fr | Dystrophie maculaire vitelliforme de Best | Dégénérescence maculaire vitelliforme de Best · Dégénérescence maculaire vitelliforme infantile · Dégénérescence maculaire vitelliforme juvénile · Dégénérescence maculaire vitelliforme type 2 · Maladie de Best · BMD · BVMD · Dystrophie maculaire héréditaire de Best · Dystrophie maculaire vitelliforme infantile · Dystrophie maculaire vitelliforme juvénile · Dystrophie maculaire vitelliforme type 2 |
| de | Best vitelliforme Makuladegeneration | BMD · BVMD · Best Makuladegeneration · Best-Krankheit · Dystrophia vitelliformis · Früh beginnende vitelliforme Makuladystrophie · Juvenile vitelliforme Makuladystrophie · Makuladegeneration, vitelliforme, Typ 2 · Polymorpe vitelline Makuladegeneration |
| es | Distrofia viteliforme macular de Best | BMD · BVMD · Degeneración viteliforme macular polimórfica · Distrofia macular de Best · Distrofia viteliforme macular de inicio juvenil · Distrofia viteliforme macular de inicio precoz · Distrofia viteliforme macular tipo 2 · Enfermedad de Best |
| it | Distrofia maculare vitelliforme di Best | BMD · BVMD · Degenerazione maculare vitelliforme polimorfica · Distrofia maculare di Best · Distrofia maculare ereditaria di Best · Distrofia maculare vitelliforme a esordio giovanile · Distrofia maculare vitelliforme a esordio precoce · Distrofia maculare vitelliforme, tipo 2 · Malattia di Best |
| nl | Vitelliforme maculadystrofie van Best | BMD · BVMD · Maculadystrofie van Best · Polymorfe vitelline maculadystrofie · Vitelliforme maculadystrofie met juveniele aanvang · Vitelliforme maculadystrofie type 2 · Vroeg beginnende vitelliforme maculadystrofie · Ziekte van Best |
| pt | Doença de Best | Distrofia macular viteliforme |
| pl | Dystrofia plamki żółtej Besta | BMD · BVMD · Choroba Besta · Dystrofia plamki Besta · Dystrofia plamki żółtej o początku w wieku młodzieńczym · Dystrofia plamki żółtej o wczesnym początku · Dystrofia plamki żółtej typu 2 · Polimorficzne zwyrodnienie plamki żółtej |
| cs | Bestova viteliformní dystrofie makuly | BMD · BVMD · Bestova nemoc · Bestova makulární dystrofie · Viteliformní dystrofie makuly, juvenilní forma · Polymorfní vitelinní makulární degenerace · Viteliformní makulární dystrofie, typ 2 · Časně nasedající viteliformní dystrofie makuly |
| uk | Вітелліформна макулодистрофія Беста | Хвороба Беста · Макулодистрофія Беста · BMD · BVMD · Ранній початок вітелліформної макулодистрофії · Ювенільна вітелліформна макулодистрофія · Поліморфна вітеллінова макулодистрофія · Вітелліформна макулодистрофія, тип 2 |
| zh | Best卵黄样黄斑营养不良 | 青年发病型卵黄样黄斑营养不良 |
| tr | Best vitelliform maküler distrofi | BMD · BVMD · Best hastalık · Best maküler distrofi · Vitelliform maküler distrofi tip 2 · Erken başlangıçlı vitelliform maküler distrofi · Polimorfik vitellin maküler dejenerasyon · jüvenil başlangıçlı vitelliform maküler distrofi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 153700 | E | validated | |
| ICD-10 | H35.5 | NTBT | inclusion | validated |
| ICD-11 | 9B70 | NTBT | index | validated |
| MONDO | 0007931 | E | validated | |
| UMLS | C2745945 | E | validated | |
| GARD | 182 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:717336Rare genetic isolated progressive predominantly macular disorder
rare genetic diseases - ORPHA:716432Rare isolated progressive predominantly macular disorder
rare ophthalmic disorders
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:98114OBSOLETE: Non-pore-loop channelopathy due to epithelial Cl- channel bestrophin anomaly referred to · inactive
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| BEST1 | Disease-causing germline mutation(s) in | Assessed | HGNC:12703 | ENSG00000167995 | 607854 | 11q12.3 | bestrophin 1 | 20301346[PMID]_16754206[PMID] |
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Prevalence and incidence
5 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 1.5 / 100 000 | Denmark | Value and class | Validated | 22633354[PMID] |
| Point prevalence | 1-5 / 10 000 | 20 / 100 000 | Sweden | Value and class | Validated | 4448697[PMID] |
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
| Point prevalence | 1-9 / 100 000 | 1.5 / 100 000 | Denmark | Value and class | Validated | 22633354[PMID] |
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only | Validated | ORPHANET_22633354[PMID]_4448697[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
6 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0008028 | Cystoid macular degeneration | |
| HP:0012508 | Metamorphopsia | |
| HP:0000505 | Visual impairment | |
| Frequent (79-30%) | ||
| HP:0000551 | Color vision defect | |
| Occasional (29-5%) | ||
| HP:0001139 | Choroideremia | |
| HP:0001123 | Visual field defect | |
Run the differential on the 3 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1243
- This record as JSON: /data/d/1243.json