BCAMD
MCID: MCL018
MIFTS: 31

Macular Dystrophy, Concentric Annular (BCAMD)

Categories: Eye diseases, Rare diseases

Aliases & Classifications for Macular Dystrophy, Concentric Annular

MalaCards integrated aliases for Macular Dystrophy, Concentric Annular:

Name: Macular Dystrophy, Concentric Annular 58 54
Bull's Eye Maculopathy 30 6
Mcdca 58 54
Macular Dystrophy, Benign Concentric Annular; Bcamd 58
Macular Dystrophy, Benign Concentric Annular 58
Benign Concentric Annular Macular Dystrophy 60
Maculopathy, Bull's Eye 54
Maculopathy, Bull's-Eye 13
Bcamd 58

Characteristics:

Orphanet epidemiological data:

60
benign concentric annular macular dystrophy
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
macular dystrophy, concentric annular:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases
Orphanet: 60  
Rare eye diseases


External Ids:

OMIM 58 153870
ICD10 via Orphanet 35 H35.5
UMLS via Orphanet 75 C1828210
Orphanet 60 ORPHA251287
MedGen 43 C1828210
SNOMED-CT via HPO 70 263681008

Summaries for Macular Dystrophy, Concentric Annular

OMIM : 58 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). (153870)

MalaCards based summary : Macular Dystrophy, Concentric Annular, also known as bull's eye maculopathy, is related to retinitis pigmentosa and macular dystrophy with central cone involvement. An important gene associated with Macular Dystrophy, Concentric Annular is ABCA4 (ATP Binding Cassette Subfamily A Member 4). Affiliated tissues include eye and testes, and related phenotypes are macular dystrophy and dyschromatopsia

Related Diseases for Macular Dystrophy, Concentric Annular

Graphical network of the top 20 diseases related to Macular Dystrophy, Concentric Annular:



Diseases related to Macular Dystrophy, Concentric Annular

Symptoms & Phenotypes for Macular Dystrophy, Concentric Annular

Human phenotypes related to Macular Dystrophy, Concentric Annular:

33
# Description HPO Frequency HPO Source Accession
1 macular dystrophy 33 HP:0007754
2 dyschromatopsia 33 HP:0007641
3 foveal hyperpigmentation 33 HP:0008001

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
dyschromatopsia
benign concentric annular macular dystrophy
depigmented ring around an intact central area
foveal hyperpigmentation
normal findings on electrophysiologic testing

Clinical features from OMIM:

153870

MGI Mouse Phenotypes related to Macular Dystrophy, Concentric Annular:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 8.62 ABCA4 CRX

Drugs & Therapeutics for Macular Dystrophy, Concentric Annular

Search Clinical Trials , NIH Clinical Center for Macular Dystrophy, Concentric Annular

Genetic Tests for Macular Dystrophy, Concentric Annular

Genetic tests related to Macular Dystrophy, Concentric Annular:

# Genetic test Affiliating Genes
1 Bull's Eye Maculopathy 30

Anatomical Context for Macular Dystrophy, Concentric Annular

MalaCards organs/tissues related to Macular Dystrophy, Concentric Annular:

42
Eye, Testes

Publications for Macular Dystrophy, Concentric Annular

Articles related to Macular Dystrophy, Concentric Annular:

(show all 37)
# Title Authors Year
1
BULL'S EYE MACULOPATHY POSSIBLY DUE TO IRON OVERLOAD IN A CHILD WITH THALASSEMIA MAJOR: A CASE OF POSSIBLE "FERRITIN RETINOPATHY". ( 30395118 )
2018
2
BULL'S EYE MACULOPATHY WITH MUTATIONS IN RDS/PRPH2 AND ROM-1. ( 29155698 )
2018
3
Bull's eye maculopathy and subfoveal deposition in two mucopolysaccharidosis type I patients on long-term enzyme replacement therapy. ( 29468207 )
2018
4
Bull's eye maculopathy caused by a novel IMPG-1 mutation. ( 30589393 )
2018
5
Delayed progression of bull's eye maculopathy. ( 28596207 )
2017
6
Bull's eye maculopathy in an HIV-positive patient receiving ritonavir. ( 26555254 )
2016
7
Whole Exome Sequencing Identifies an Adult-onset Case of Methylmalonic Aciduria and Homocystinuria Type C (cblC) with Non-syndromic Bull's Eye Maculopathy. ( 25687216 )
2015
8
Quantitative fundus autofluorescence distinguishes ABCA4-associated and non-ABCA4-associated bull's-eye maculopathy. ( 25283059 )
2015
9
Bull'S eye maculopathy in a patient taking sertraline. ( 25401995 )
2015
10
Near-infrared reflectance bull's eye maculopathy as an early indication of hydroxychloroquine toxicity. ( 25834390 )
2015
11
Ritonavir and bull's eye maculopathy: case report. ( 27625933 )
2013
12
The PROM1 mutation p.R373C causes an autosomal dominant bull's eye maculopathy associated with rod, rod-cone, and macular dystrophy. ( 20393116 )
2010
13
G1961E mutant allele in the Stargardt disease gene ABCA4 causes bull's eye maculopathy. ( 19217903 )
2009
14
Images in clinical medicine. Bull's-eye maculopathy. ( 19458367 )
2009
15
ABCA4 mutations and discordant ABCA4 alleles in patients and siblings with bull's-eye maculopathy. ( 18024811 )
2007
16
Chloroquine-induced bull's eye maculopathy in rheumatoid arthritis: related to disease duration? ( 17264974 )
2007
17
Bull's-eye maculopathy in an infant with Leigh disease. ( 16815282 )
2006
18
Chloroquine-induced bull's eye maculopathy. ( 15687518 )
2005
19
Bull's-eye maculopathy associated with quinacrine therapy for malaria. ( 15013892 )
2004
20
Bull's-eye maculopathy secondary to herbal toxicity from uva ursi. ( 15183807 )
2004
21
Bull's eye maculopathy with deferoxamine. ( 12756028 )
2003
22
Bull's eye maculopathy in cat-eye syndrome. ( 11927860 )
2002
23
Clinical variations in assessment of bull's-eye maculopathy. ( 12003605 )
2002
24
Assessment of mutations in the Best macular dystrophy (VMD2) gene in patients with adult-onset foveomacular vitelliform dystrophy, age-related maculopathy, and bull's-eye maculopathy. ( 11713080 )
2001
25
Unilateral cone dysfunction with bull's eye maculopathy. ( 11150264 )
2001
26
Reversible bull's-eye maculopathy associated with intravitreal fomivirsen therapy for cytomegalovirus retinitis. ( 11004306 )
2000
27
Unilateral bull's-eye maculopathy secondary to trauma. ( 11131423 )
2000
28
Bull's-eye maculopathy associated with chronic macular hole. ( 9715698 )
1998
29
Bull's eye maculopathy in arcuate pigment epithelial dystrophy. ( 9428020 )
1997
30
Pattern-reversal visual-evoked response in bull's eye maculopathy associated with Stargardt's disease. ( 8539004 )
1995
31
A novel mutation (Asn244Lys) in the peripherin/RDS gene causing autosomal dominant retinitis pigmentosa associated with bull's-eye maculopathy detected by nonradioisotopic SSCP. ( 8020945 )
1994
32
Bull's eye maculopathy with trichorhexis nodosa. ( 7749668 )
1994
33
Bull's-eye maculopathy, negative electroretinogram and low plasma cyclic guanosine monophosphate level. A report of two cases. ( 2176145 )
1990
34
Bull's-eye maculopathy and negative electroretinogram. ( 2595114 )
1989
35
Main types of bull's eye maculopathy. Functional classification. ( 6518979 )
1984
36
Bull's eye maculopathy with early cone degeneration. ( 588526 )
1977
37
Retinal vascular changes in bull's eye maculopathy. ( 952823 )
1976

Variations for Macular Dystrophy, Concentric Annular

ClinVar genetic disease variations for Macular Dystrophy, Concentric Annular:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CRX NM_000554.5(CRX): c.449C> G (p.Ser150Ter) single nucleotide variant Pathogenic rs864309706 GRCh38 Chromosome 19, 47839516: 47839516
2 CRX NM_000554.5(CRX): c.449C> G (p.Ser150Ter) single nucleotide variant Pathogenic rs864309706 GRCh37 Chromosome 19, 48342773: 48342773
3 CRX NM_000554.5(CRX): c.657delC (p.Tyr221Thrfs) deletion Pathogenic rs864309707 GRCh37 Chromosome 19, 48342981: 48342981
4 CRX NM_000554.5(CRX): c.657delC (p.Tyr221Thrfs) deletion Pathogenic rs864309707 GRCh38 Chromosome 19, 47839724: 47839724
5 CRX NM_000554.5(CRX): c.661delT (p.Tyr221Thrfs) deletion Pathogenic rs864309708 GRCh38 Chromosome 19, 47839728: 47839728
6 CRX NM_000554.5(CRX): c.661delT (p.Tyr221Thrfs) deletion Pathogenic rs864309708 GRCh37 Chromosome 19, 48342985: 48342985
7 ABCA4 NM_000350.2(ABCA4): c.5461-10T> C single nucleotide variant Pathogenic rs1800728 GRCh37 Chromosome 1, 94476951: 94476951
8 ABCA4 NM_000350.2(ABCA4): c.5461-10T> C single nucleotide variant Pathogenic rs1800728 GRCh38 Chromosome 1, 94011395: 94011395
9 ABCA4 NM_000350.2(ABCA4): c.2041C> T (p.Arg681Ter) single nucleotide variant Pathogenic rs61749423 GRCh38 Chromosome 1, 94060656: 94060656
10 ABCA4 NM_000350.2(ABCA4): c.2041C> T (p.Arg681Ter) single nucleotide variant Pathogenic rs61749423 GRCh37 Chromosome 1, 94526212: 94526212

Expression for Macular Dystrophy, Concentric Annular

Search GEO for disease gene expression data for Macular Dystrophy, Concentric Annular.

Pathways for Macular Dystrophy, Concentric Annular

GO Terms for Macular Dystrophy, Concentric Annular

Biological processes related to Macular Dystrophy, Concentric Annular according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 8.96 ABCA4 CRX
2 visual perception GO:0007601 8.62 ABCA4 CRX

Sources for Macular Dystrophy, Concentric Annular

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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