North Carolina macular dystrophy

General Information (adopted from Orphanet):

Synonyms, Signs: NORTH CAROLINA MACULAR DYSTROPHY
FOVEAL DYSTROPHY, PROGRESSIVE
RETINAL PIGMENT EPITHELIAL DYSTROPHY, CENTRAL
MCDR1
CAPED
NCMD
central areolar pigment epithelial dystrophy
CAPE dystrophy
Progressive foveal dystrophy
Central retinal pigment epithelial dystrophy
North Carolina macular dystrophy, retinal 1
Number of Symptoms 8
OrphanetNr: 75327
OMIM Id: 136550
ICD-10: H35.5
UMLs: C0730294
MeSH: C537835
MedDRA:
Snomed: 312925009

Prevalence, inheritance and age of onset:

Prevalence: 2 families [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Colobomatous and areolar dystrophy
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0002909) Generalized aminoaciduria 13 / 7739
2
(HPO:0011510) Drusen 6 / 7739
3
(HPO:0007798) Foveal dystrophy 1 / 7739
4
(HPO:0008002) Abnormality of macular pigmentation 20 / 7739
5
(HPO:0007754) Macular dystrophy 26 / 7739
6
(OMIM) Macular pigmentary changes and drusen 1 / 7739
7
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
8
(OMIM) Normal color vision 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Lefler et al. (1971) described a family from North Carolina in which members of 4 generations were affected with what the authors termed 'dominant macular degeneration and amino aciduria.' Onset was late in the first decade of life. ...
Molecular genetics OMIM In patients from 6q-linked multigenerational families diagnosed with PBCRA (600790) and MCDR1, or in a single patient from an autosomal dominant STGD family, Gehrig et al. (1998) found no disease-associated mutations in the IMPG1 gene (602870).