Retinopathy, Burgess-Black type

General Information (adopted from Orphanet):

Synonyms, Signs: ARB
Autosomal recessive bestrophinopathy
Number of Symptoms 6
OrphanetNr: 139455
OMIM Id: 611809
ICD-10: H35.5
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

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

Symptom Information: Sort by abundance 

1
(HPO:0007722) Retinal pigment epithelial atrophy 10 / 7739
2
(HPO:0007663) Reduced visual acuity 18179881 IBIS 100 / 7739
3
(HPO:0000654) Decreased light- and dark-adapted electroretinogram amplitude 18179881 IBIS 17 / 7739
4
(HPO:0000540) Hypermetropia 18179881 IBIS 99 / 7739
5
(HPO:0012045) Retinal flecks 18179881 IBIS 6 / 7739
6
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Burgess et al. (2008) described a distinct retinal disorder they designated autosomal recessive bestrophinopathy (ARB). Characteristics of the disorder included central visual loss, a characteristic retinopathy, an absent electrooculogram (EOG) light rise, and a reduced electroretinogram (ERG). None ...
Molecular genetics OMIM Burgess et al. (2008) sequenced the BEST1 gene (607854) in 5 families and identified DNA variants in each of 10 alleles (e.g., 607854.0015). No clinical or electrophysiologic abnormalities were found in heterozygotes. Two missense isoforms severely reduced chloride ...