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Best vitelliform macular dystrophy

1 OMIM reference -
1 associated gene
6 signs/symptoms

COMMON GENES: 1

1 OMIM reference -
1 associated gene
No signs/symptoms info

Best vitelliform macular dystrophy

MRCS syndrome

BEST1

(UniProt - OMIM)

(UniProt - OMIM)


COMMON GENES	BEST1

Citations in the biomedical literature:

Best vitelliform macular dystrophy		MRCS syndrome
	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): - Microcornea - rod-cone dystrophy - cataract - posterior staphyloma

	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): (no data available)

	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: childhood Average age of death: - Type of inheritance: autosomal dominant

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

Best vitelliform macular dystrophy
	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
MRCS syndrome
(no data available)