BCAMD
MCID: MCL018
MIFTS: 33

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 57 53
Bull's Eye Maculopathy 29 6
Mcdca 57 53
Macular Dystrophy, Benign Concentric Annular; Bcamd 57
Macular Dystrophy, Benign Concentric Annular 57
Benign Concentric Annular Macular Dystrophy 59
Maculopathy, Bull's Eye 53
Maculopathy, Bull's-Eye 13
Bcamd 57

Characteristics:

Orphanet epidemiological data:

59
benign concentric annular macular dystrophy
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
macular dystrophy, concentric annular:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases
Orphanet: 59  
Rare eye diseases


External Ids:

OMIM 57 153870
Orphanet 59 ORPHA251287
ICD10 via Orphanet 34 H35.5
UMLS via Orphanet 74 C1828210
MedGen 42 C1828210
SNOMED-CT via HPO 69 263681008

Summaries for Macular Dystrophy, Concentric Annular

OMIM : 57 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 cone-rod dystrophy 8 and stargardt disease 1. An important gene associated with Macular Dystrophy, Concentric Annular is CRX (Cone-Rod Homeobox). Affiliated tissues include eye and testes, and related phenotypes are macular dystrophy and dyschromatopsia

Related Diseases for Macular Dystrophy, Concentric Annular

Diseases related to Macular Dystrophy, Concentric Annular via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cone-rod dystrophy 8 9.9 CRX ABCA4
2 stargardt disease 1 9.9 CRX ABCA4
3 cone-rod dystrophy 9 9.9 CRX ABCA4
4 prolonged electroretinal response suppression 9.9 CRX ABCA4
5 retinal disease 9.8 CRX ABCA4
6 cone-rod dystrophy 2 9.8 CRX ABCA4
7 retinal degeneration 9.8 CRX ABCA4
8 fundus dystrophy 9.8 CRX ABCA4
9 leber congenital amaurosis 9.8 CRX ABCA4
10 retinitis pigmentosa 9.7 CRX ABCA4

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

Symptoms via clinical synopsis from OMIM:

57
Eyes:
dyschromatopsia
benign concentric annular macular dystrophy
depigmented ring around an intact central area
foveal hyperpigmentation

Laboratory:
normal findings on electrophysiologic testing


Clinical features from OMIM:

153870

Human phenotypes related to Macular Dystrophy, Concentric Annular:

32
# Description HPO Frequency HPO Source Accession
1 macular dystrophy 32 HP:0007754
2 dyschromatopsia 32 HP:0007641
3 foveal hyperpigmentation 32 HP:0008001

MGI Mouse Phenotypes related to Macular Dystrophy, Concentric Annular:

46
# 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 29

Anatomical Context for Macular Dystrophy, Concentric Annular

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

41
Eye, Testes

Publications for Macular Dystrophy, Concentric Annular

Articles related to Macular Dystrophy, Concentric Annular:

(show all 36)
# 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
Delayed progression of bull's eye maculopathy. ( 28596207 )
2017
5
Bull's eye maculopathy in an HIV-positive patient receiving ritonavir. ( 26555254 )
2016
6
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
7
Quantitative fundus autofluorescence distinguishes ABCA4-associated and non-ABCA4-associated bull's-eye maculopathy. ( 25283059 )
2015
8
Bull'S eye maculopathy in a patient taking sertraline. ( 25401995 )
2015
9
Near-infrared reflectance bull's eye maculopathy as an early indication of hydroxychloroquine toxicity. ( 25834390 )
2015
10
Ritonavir and bull's eye maculopathy: case report. ( 27625933 )
2013
11
The PROM1 mutation p.R373C causes an autosomal dominant bull's eye maculopathy associated with rod, rod-cone, and macular dystrophy. ( 20393116 )
2010
12
G1961E mutant allele in the Stargardt disease gene ABCA4 causes bull's eye maculopathy. ( 19217903 )
2009
13
Images in clinical medicine. Bull's-eye maculopathy. ( 19458367 )
2009
14
ABCA4 mutations and discordant ABCA4 alleles in patients and siblings with bull's-eye maculopathy. ( 18024811 )
2007
15
Chloroquine-induced bull's eye maculopathy in rheumatoid arthritis: related to disease duration? ( 17264974 )
2007
16
Bull's-eye maculopathy in an infant with Leigh disease. ( 16815282 )
2006
17
Chloroquine-induced bull's eye maculopathy. ( 15687518 )
2005
18
Bull's-eye maculopathy associated with quinacrine therapy for malaria. ( 15013892 )
2004
19
Bull's-eye maculopathy secondary to herbal toxicity from uva ursi. ( 15183807 )
2004
20
Bull's eye maculopathy with deferoxamine. ( 12756028 )
2003
21
Bull's eye maculopathy in cat-eye syndrome. ( 11927860 )
2002
22
Clinical variations in assessment of bull's-eye maculopathy. ( 12003605 )
2002
23
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
24
Unilateral cone dysfunction with bull's eye maculopathy. ( 11150264 )
2001
25
Reversible bull's-eye maculopathy associated with intravitreal fomivirsen therapy for cytomegalovirus retinitis. ( 11004306 )
2000
26
Unilateral bull's-eye maculopathy secondary to trauma. ( 11131423 )
2000
27
Bull's-eye maculopathy associated with chronic macular hole. ( 9715698 )
1998
28
Bull's eye maculopathy in arcuate pigment epithelial dystrophy. ( 9428020 )
1997
29
Pattern-reversal visual-evoked response in bull's eye maculopathy associated with Stargardt's disease. ( 8539004 )
1995
30
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
31
Bull's eye maculopathy with trichorhexis nodosa. ( 7749668 )
1994
32
Bull's-eye maculopathy, negative electroretinogram and low plasma cyclic guanosine monophosphate level. A report of two cases. ( 2176145 )
1990
33
Bull's-eye maculopathy and negative electroretinogram. ( 2595114 )
1989
34
Main types of bull's eye maculopathy. Functional classification. ( 6518979 )
1984
35
Bull's eye maculopathy with early cone degeneration. ( 588526 )
1977
36
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 ABCA4 NM_000350.2(ABCA4): c.5461-10T> C single nucleotide variant Pathogenic rs1800728 GRCh37 Chromosome 1, 94476951: 94476951
2 ABCA4 NM_000350.2(ABCA4): c.5461-10T> C single nucleotide variant Pathogenic rs1800728 GRCh38 Chromosome 1, 94011395: 94011395
3 CRX NM_000554.5(CRX): c.449C> G (p.Ser150Ter) single nucleotide variant Pathogenic rs864309706 GRCh38 Chromosome 19, 47839516: 47839516
4 CRX NM_000554.5(CRX): c.449C> G (p.Ser150Ter) single nucleotide variant Pathogenic rs864309706 GRCh37 Chromosome 19, 48342773: 48342773
5 CRX NM_000554.5(CRX): c.657delC (p.Tyr221Thrfs) deletion Pathogenic rs864309707 GRCh37 Chromosome 19, 48342981: 48342981
6 CRX NM_000554.5(CRX): c.657delC (p.Tyr221Thrfs) deletion Pathogenic rs864309707 GRCh38 Chromosome 19, 47839724: 47839724
7 CRX NM_000554.5(CRX): c.661delT (p.Tyr221Thrfs) deletion Pathogenic rs864309708 GRCh38 Chromosome 19, 47839728: 47839728
8 CRX NM_000554.5(CRX): c.661delT (p.Tyr221Thrfs) deletion Pathogenic rs864309708 GRCh37 Chromosome 19, 48342985: 48342985
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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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