Preferred Label : Macular dystrophy, vitelliform, 3;
Symbol : VMD3;
CISMeF acronym : AOFMD; AVMD; VMD3;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : AVMD; Foveomacular dystrophy, adult-onset, with or without choroidal neovascularization; Vitelliform macular dystrophy, adult-onset; AOFMD; Foveomacular dystrophy, adult-onset;
Description : Adult-onset vitelliform macular dystrophy is a rare autosomal dominant disorder with
incomplete penetrance and highly variable expression. Patients usually become symptomatic
in the fourth or fifth decade of life with a protracted disease of decreased visual
acuity. It is considered a subtype of patterned dystrophy of the retinal pigment epithelium
(RPE). Best disease is a similar disorder, but is generally considered distinct from
AVMD (Brecher and Bird, 1990; Felbor et al., 1997; Kramer et al., 2000).;
Inheritance : Autosomal dominant;
Molecular basis : Caused by mutation in the peripherin 2 gene (PRPH2, 179605.0008);
Prefixed ID : #608161;
Origin ID : 608161;
UMLS CUI : C1842914;
Currated CISMeF NLP mapping
- DO Cross reference
- Genes related to phenotype
- HPO term(s)
- Not associated HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
- Validated automatic mappings to NTBT
