Bothnia retinal dystrophy

General Information (adopted from Orphanet):

Synonyms, Signs: VASTERBOTTEN DYSTROPHY
Västerbotten dystrophy
Number of Symptoms 6
OrphanetNr: 85128
OMIM Id: 607475
ICD-10: H35.5
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

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

Symptom Information: Sort by abundance 

1
(HPO:0000608) Macular degeneration 36 / 7739
2
(HPO:0000512) Abnormal electroretinogram 61 / 7739
3
(HPO:0000662) Nyctalopia 92 / 7739
4
(HPO:0000556) Retinal dystrophy 65 / 7739
5
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
6
(OMIM) Retinitis punctata albescens 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM In Vasterbotten County in northern Sweden an usually high frequency of a distinctive form of retinal dystrophy, termed Bothnia dystrophy, occurs. Burstedt et al. (1999, 2001) described the phenotype. Fifty-seven cases of Bothnia dystrophy were diagnosed, indicating a ...
Molecular genetics OMIM Burstedt et al. (1999) showed that all 20 patients with Bothnia dystrophy that they studied were homozygous for a C-to-T substitution in exon 7 of the RLBP1 gene, leading to an R234W mutation.