PBCRA
MCID: CHR167
MIFTS: 27

Chorioretinal Atrophy, Progressive Bifocal (PBCRA)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Chorioretinal Atrophy, Progressive Bifocal

MalaCards integrated aliases for Chorioretinal Atrophy, Progressive Bifocal:

Name: Chorioretinal Atrophy, Progressive Bifocal 57 20 70
Progressive Bifocal Chorioretinal Atrophy 57 20 58 13 6
Pbcra 57 20 58
Crapb 20 58

Characteristics:

Orphanet epidemiological data:

58
progressive bifocal chorioretinal atrophy
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
variable rate of progression
evidence of macular lesions at birth
nasal retinal disease observed in infancy
slowly progressive disease


HPO:

31
chorioretinal atrophy, progressive bifocal:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare eye diseases


External Ids:

OMIM® 57 600790
MESH via Orphanet 45 C535356
UMLS via Orphanet 71 C1833321
Orphanet 58 ORPHA75373
MedGen 41 C1833321
UMLS 70 C1833321

Summaries for Chorioretinal Atrophy, Progressive Bifocal

GARD : 20 Progressive bifocal chorioretinal dystrophy (PBCRA) is an inherited condition of the eye characterized by a large wasted region of the macula, lesions in the area of the retina closest to the nose (the nasal retina), nystagmus (fast, uncontrollable movements of the eyes), myopia (nearsightedness), poor vision, and slow disease progression. Widespread abnormalities of rod and cone function has been described. PBCRA is caused by mutations in a gene which has mapped to a region on chromosome 6q, close to the macular dystrophy retinal 1 (MCDR1) locus. It is inherited in an autosomal dominant fashion. To date, there is no effective treatment for this condition.

MalaCards based summary : Chorioretinal Atrophy, Progressive Bifocal, also known as progressive bifocal chorioretinal atrophy, is related to macular dystrophy, retinal, 1, north carolina type and retinal detachment. An important gene associated with Chorioretinal Atrophy, Progressive Bifocal is MCDR1 (Macular Dystrophy, Retinal, 1 (North Carolina Type)). Affiliated tissues include eye and retina, and related phenotypes are nystagmus and visual impairment

OMIM® : 57 Progressive bifocal chorioretinal atrophy (PBCRA) is a rare, autosomal dominant congenital chorioretinal dystrophy. The disorder is characterized by progressive macular and nasal retinal atrophic lesions, nystagmus, myopia, and poor vision. Invariably, there are 2 distinct foci of atrophy, a temporal focus that is present at birth and a nasal focus that appears early in life. Retinal detachment is an additional complication of the disease (Douglas et al., 1968; Kelsell et al., 1995). (600790) (Updated 20-May-2021)

Related Diseases for Chorioretinal Atrophy, Progressive Bifocal

Diseases related to Chorioretinal Atrophy, Progressive Bifocal via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 15)
# Related Disease Score Top Affiliating Genes
1 macular dystrophy, retinal, 1, north carolina type 29.3 MCDR1 LOC111365204
2 retinal detachment 10.2
3 myopia 10.2
4 fundus dystrophy 10.2
5 pathologic nystagmus 10.2
6 inherited retinal disorder 10.2
7 stargardt disease 3 10.0
8 cone-rod dystrophy 2 9.9
9 retinitis pigmentosa 9.9
10 retinitis pigmentosa 25 9.9
11 macular degeneration, age-related, 1 9.9
12 cone-rod dystrophy 7 9.9
13 neuroretinitis 9.9
14 retinitis 9.9
15 stargardt macular degeneration 9.9

Graphical network of the top 20 diseases related to Chorioretinal Atrophy, Progressive Bifocal:



Diseases related to Chorioretinal Atrophy, Progressive Bifocal

Symptoms & Phenotypes for Chorioretinal Atrophy, Progressive Bifocal

Human phenotypes related to Chorioretinal Atrophy, Progressive Bifocal:

58 31 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000639
2 visual impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000505
3 myopia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000545
4 chorioretinal dystrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0001135
5 esotropia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000565
6 macular atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0007401
7 pigmentary retinopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000580
8 retinal detachment 31 HP:0000541
9 chorioretinal atrophy 31 HP:0000533

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
nystagmus
photophobia
myopia
reduced visual acuity
congenital chorioretinal dystrophy
more

Clinical features from OMIM®:

600790 (Updated 20-May-2021)

Drugs & Therapeutics for Chorioretinal Atrophy, Progressive Bifocal

Search Clinical Trials , NIH Clinical Center for Chorioretinal Atrophy, Progressive Bifocal

Genetic Tests for Chorioretinal Atrophy, Progressive Bifocal

Anatomical Context for Chorioretinal Atrophy, Progressive Bifocal

MalaCards organs/tissues related to Chorioretinal Atrophy, Progressive Bifocal:

40
Eye, Retina

Publications for Chorioretinal Atrophy, Progressive Bifocal

Articles related to Chorioretinal Atrophy, Progressive Bifocal:

# Title Authors PMID Year
1
Progressive bifocal chorio-retinal atrophy. A rare familial disease of the eyes. 6 57
5686965 1968
2
Unique noncoding variants upstream of PRDM13 are associated with a spectrum of developmental retinal dystrophies including progressive bifocal chorioretinal atrophy. 61 57
30710461 2019
3
Assessment of the interphotoreceptor matrix proteoglycan-1 (IMPG1) gene localised to 6q13-q15 in autosomal dominant Stargardt-like disease (ADSTGD), progressive bifocal chorioretinal atrophy (PBCRA), and North Carolina macular dystrophy (MCDR1). 57 61
9719369 1998
4
Clinical features of progressive bifocal chorioretinal atrophy: a retinal dystrophy linked to chromosome 6q. 61 57
8643244 1996
5
Localization of the gene for progressive bifocal chorioretinal atrophy (PBCRA) to chromosome 6q. 57 61
8541856 1995
6
Characterization of a dominant cone degeneration in a green fluorescent protein-reporter mouse with disruption of Loci associated with human dominant retinal dystrophy. 61
21705682 2011
7
Autosomal dominant macular atrophy at 6q14 excludes CORD7 and MCDR1/PBCRA loci. 61
10634627 2000
8
Genomic organization and chromosomal localization of the interphotoreceptor matrix proteoglycan-1 (IMPG1) gene: a candidate for 6q-linked retinopathies. 61
9691169 1998

Variations for Chorioretinal Atrophy, Progressive Bifocal

ClinVar genetic disease variations for Chorioretinal Atrophy, Progressive Bifocal:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LOC111365204 NC_000006.11:g.100046783A>C SNV Pathogenic 625874 rs1008984719 GRCh37: 6:100046783-100046783
GRCh38: 6:99598907-99598907
2 LOC111365204 NC_000006.11:g.100046804T>C SNV Pathogenic 625875 rs1583609839 GRCh37: 6:100046804-100046804
GRCh38: 6:99598928-99598928
3 LOC111365204 NC_000006.11:g.100046783A>C SNV Pathogenic 625874 rs1008984719 GRCh37: 6:100046783-100046783
GRCh38: 6:99598907-99598907

Expression for Chorioretinal Atrophy, Progressive Bifocal

Search GEO for disease gene expression data for Chorioretinal Atrophy, Progressive Bifocal.

Pathways for Chorioretinal Atrophy, Progressive Bifocal

GO Terms for Chorioretinal Atrophy, Progressive Bifocal

Sources for Chorioretinal Atrophy, Progressive Bifocal

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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