Benign concentric annular macular dystrophy

General Information (adopted from Orphanet):

Synonyms, Signs: MACULAR DYSTROPHY, BENIGN CONCENTRIC ANNULAR
BCAMD
MCDCA
Number of Symptoms 7
OrphanetNr: 251287
OMIM Id: 153870
ICD-10: H35.5
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic macular dystrophy
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0007754) Macular dystrophy 26 / 7739
2
 (HPO:0007641) Dyschromatopsia 19 / 7739
3
 (HPO:0008001) Foveal hyperpigmentation 2 / 7739
4
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
5
 (OMIM) Benign concentric annular macular dystrophy 1 / 7739
6
 (OMIM) Normal findings on electrophysiologic testing 1 / 7739
7
 (OMIM) Depigmented ring around an intact central area 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Benign concentric annular macular dystrophy (BCAMD) is initially characterized by parafoveal hypopigmentation and good visual acuity, but progresses to a retinitis pigmentosa (RP)-like phenotype with a bull's eye configuration (van Lith-Verhoeven et al., 2004).
Clinical Description OMIM In a grandmother and her daughter, granddaughter, and grandson, Deutman (1974) described a benign concentric annular macular dystrophy. The affected persons showed a depigmented ring around an intact central area, not unlike the eyes in chloroquin retinopathy and ...
Molecular genetics OMIM In affected members of a Dutch family with BCAMD mapping to chromosome 6p12.3-q16, van Lith-Verhoeven et al. (2004) screened for mutations in 5 candidate genes. They identified a mutation in the interphotoreceptor matrix proteoglycan-1 gene (IMPG1; 602870), a ...