BCAMD
MCID: MCL018
MIFTS: 27
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Macular Dystrophy, Concentric Annular (BCAMD)
Categories:
Eye diseases, Rare diseases
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MalaCards integrated aliases for Macular Dystrophy, Concentric Annular:
Characteristics:Orphanet epidemiological data:58
benign concentric annular macular dystrophy
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; HPO:31Classifications:
ICD10:
33
Orphanet: 58
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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) (Updated 05-Mar-2021)
MalaCards based summary : Macular Dystrophy, Concentric Annular, also known as mcdca, is related to stargardt disease and cone dystrophy. An important gene associated with Macular Dystrophy, Concentric Annular is CRX (Cone-Rod Homeobox). Affiliated tissues include eye and retina, and related phenotypes are macular dystrophy and dyschromatopsia |
Human phenotypes related to Macular Dystrophy, Concentric Annular:31
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:153870 (Updated 05-Mar-2021)MGI Mouse Phenotypes related to Macular Dystrophy, Concentric Annular:46
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MalaCards organs/tissues related to Macular Dystrophy, Concentric Annular:40
Eye,
Retina
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Articles related to Macular Dystrophy, Concentric Annular:
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ClinVar genetic disease variations for Macular Dystrophy, Concentric Annular:6
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Search
GEO
for disease gene expression data for Macular Dystrophy, Concentric Annular.
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Biological processes related to Macular Dystrophy, Concentric Annular according to GeneCards Suite gene sharing:
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