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1 OMIM reference -
1 associated gene
6 signs/symptoms
COMMON GENES: 1
1 OMIM reference -
1 associated gene
4 signs/symptoms
Best vitelliform macular dystrophy
Autosomal dominant vitreoretinochoroidopathy

BEST1 BEST1


COMMON
GENES
BEST1



Citations in the biomedical literature:


Best vitelliform macular dystrophy
BEST1
Autosomal dominant vitreoretinochoroidopathy



Best vitelliform macular dystrophy
Autosomal dominant vitreoretinochoroidopathy

Synonym(s):
- 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

Synonym(s):
- ADVIRC

Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease

Classification (ICD10):
- Diseases of the eye and adnexa -
Classification (ICD10):
- Diseases of the eye and adnexa -

Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: variable
Average age of death: normal
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C536352

Best vitelliform macular dystrophy
Autosomal dominant vitreoretinochoroidopathy

Very frequent
- Autosomal dominant inheritance
- Macular dystrophy / absence / hypoplasia of the macula
- Mild visual loss / impaired visual acuity

Frequent
- Achromatopsia / dyschromatopsia / daltonism / impaired colour vision

Occasional
- Abnormal visual field / hemianopsia / hemianopia / scotoma / visual peripheral rim
- Choroidal anomalies / atrophy / choroideremia


Very frequent
- Retinitis pigmentosa / retinal pigmentary changes

Frequent
- Optic nerve anomaly / optic atrophy / anomaly of the papilla

Occasional
- Abnormal ERG / electroretinogram / electroretinography
- Aphakia / microphakia / spherophakia / biphakia / absence of lens / lenticone / lentiglobus