Preferred Label : Macular dystrophy, retinal, 1, north carolina type;
Symbol : MCDR1;
CISMeF acronym : CAPED; MCDR1; NCMD;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : North carolina macular dystrophy; Foveal dystrophy, progressive; Central areolar pigment epithelial dystrophy; Retinal pigment epithelial dystrophy, central; NCMD; CAPED;
Description : North Carolina macular dystrophy (NCMD, MCDR1) is a congenital autosomal dominant
trait that appears to be completely penetrant. It is generally nonprogressive except
for the development of choroidal neovascular membranes in some patients. The ophthalmoscopic
findings are highly variable and are always much more dramatic than one would predict
from the relatively good visual acuity level, which ranges from 20/20 to 20/400 (median,
20/60). Patients may have only a few drusen in the central macular region (grade I),
confluent drusen confined to the central macular region (grade II), or a severe macular
coloboma/staphyloma (grade III) involving 3 to 4 disc areas of the central macular
region. Color vision is normal. Electrophysiologic studies are also normal (summary
by Small, 1998). - Genetic Heterogeneity of Retinal Macular Dystrophy Retinal Macular
Dystrophy-1 (MDCR1), also known as North Carolina macular dystrophy (NCMD) has been
mapped to chromosome 6q13-q21.;
Inheritance : Autosomal dominant;
Molecular basis : Caused by mutation in the chromosome 6 DNase I hypersensitivity site 1 (DHS6S1, 616842.0001);
Prefixed ID : #136550;
Origin ID : 136550;
UMLS CUI : C0730294;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- Genes related to phenotype
- HPO term(s)
- Not associated HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
