Preferred Label : Macular dystrophy, vitelliform, 2;
Symbol : VMD2;
CISMeF acronym : BMD; VMD2;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Best vitelliform macular dystrophy, multifocal; Vitelliform macular dystrophy, juvenile-onset; Macular degeneration, polymorphic vitelline; Best macular dystrophy; BMD; Vitelliform macular dystrophy, early-onset;
Description : Best vitelliform macular dystrophy is an early-onset autosomal dominant disorder characterized
by large deposits of lipofuscin-like material in the subretinal space, which creates
characteristic macular lesions resembling the yolk of an egg ('vitelliform'). Later,
the affected area becomes deeply and irregularly pigmented and a process called 'scrambling
the egg' occurs. The disorder is progressive and loss of vision may occur (Braley,
1966; White et al., 2000). Although some morphologic similarities exist between adult
vitelliform macular dystrophy and the juvenile form of vitelliform macular dystrophy,
they are generally considered distinct entities (Brecher and Bird, 1990; Felbor et
al., 1997; Kramer et al., 2000). In multifocal vitelliform macular dystrophy, lesions
are typically manifested as sharply demarcated yellowish cysts in the macula, near
the retinal vascular arcades, and surrounding the optic disc (summary by Boon et al.,
2007).;
Inheritance : Autosomal dominant;
Molecular basis : Caused by mutation in the bestrophin-1 gene (BEST1, 607854.0001);
Prefixed ID : #153700;
Origin ID : 153700;
UMLS CUI : C2745945;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- DO Cross reference
- False automatic mappings
- Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- See also inter- (CISMeF)
- Semantic type(s)
- UMLS correspondences (same concept)
- Validated automatic mappings to BTNT
- Validated automatic mappings to NTBT
