Progressive bifocal chorioretinal atrophy

General Information (adopted from Orphanet):

Synonyms, Signs: PROGRESSIVE BIFOCAL CHORIORETINAL ATROPHY
CRAPB
PBCRA
Number of Symptoms 12
OrphanetNr: 75373
OMIM Id: 600790
ICD-10:
UMLs: C1833321
MeSH: C535356
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2 families [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: No data available
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Retinal dystrophy
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000505) Visual impairment 297 / 7739
2
 (HPO:0001135) Chorioretinal dystrophy 18 / 7739
3
 (HPO:0000533) Chorioretinal atrophy 24 / 7739
4
 (HPO:0007920) Congenital chorioretinal dystrophy 1 / 7739
5
 (HPO:0007810) Progressive bifocal chorioretinal atrophy 1 / 7739
6
 (HPO:0000541) Retinal detachment 87 / 7739
7
 (HPO:0008046) Abnormality of the retinal vasculature Very frequent [Orphanet] 41 / 7739
8
 (HPO:0000639) Nystagmus Very frequent [Orphanet] 555 / 7739
9
 (HPO:0000545) Myopia Very frequent [Orphanet] 286 / 7739
10
 (OMIM) Progressive macular and nasal retinal atrophic lesions 1 / 7739
11
 (OMIM) Congenital temporal atrophy 1 / 7739
12
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Progressive bifocal chorioretinal atrophy 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 (Douglas et al., 1968). Invariably, there are 2 distinct ...
Molecular genetics OMIM In patients from 6q-linked multigenerational families diagnosed with PBCRA or MCDR1 (136550), as well as in a single patient from an autosomal dominant STGD family unlinked to STGD2 or STGD3 loci on 13q or 6q (see 600110), respectively, ...