U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Bothnia retinal dystrophy

MedGen UID:
334499
•Concept ID:
C1843816
•
Disease or Syndrome
Synonym: VASTERBOTTEN DYSTROPHY
SNOMED CT: Bothnia retinal dystrophy (715647007); Vasterbotten dystrophy (715647007)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Gene (location): RLBP1 (15q26.1)
 
Monarch Initiative: MONDO:0011838
OMIM®: 607475
Orphanet: ORPHA85128

Definition

Bothnia retinal dystrophy is an autosomal recessive disorder with onset of night blindness in childhood. The fundus has a characteristic appearance with yellow-white spots, and at later stages patients develop widespread retinal degeneration with areas of chorioretinal atrophy (summary by Granse et al., 2001). [from OMIM]

Clinical features

From HPO
Macular degeneration
MedGen UID:
7434
•Concept ID:
C0024437
•
Disease or Syndrome
A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells of the macula lutea.
See: Feature record | Search on this feature
Night blindness
MedGen UID:
10349
•Concept ID:
C0028077
•
Disease or Syndrome
Inability to see well at night or in poor light.
See: Feature record | Search on this feature
Abnormal electroretinogram
MedGen UID:
96908
•Concept ID:
C0476397
•
Finding
Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography.
See: Feature record | Search on this feature
Retinal dystrophy
MedGen UID:
208903
•Concept ID:
C0854723
•
Finding
Retinal dystrophy is an abnormality of the retina associated with a hereditary process. Retinal dystrophies are defined by their predominantly monogenic inheritance and they are frequently associated with loss or dysfunction of photoreceptor cells as a primary or secondary event.
See: Feature record | Search on this feature

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Bothnia retinal dystrophy in Orphanet.

Professional guidelines

PubMed

Genotype-phenotype correlations in Bothnia dystrophy caused by RLBP1 gene sequence variations.
Burstedt M, Jonsson F, Köhn L, Burstedt M, Kivitalo M, Golovleva I
Acta Ophthalmol 2013 Aug;91(5):437-44. Epub 2012 May 2 doi: 10.1111/j.1755-3768.2012.02431.x. PMID: 22551409

Recent clinical studies

Etiology

Genotype-phenotype correlations in Bothnia dystrophy caused by RLBP1 gene sequence variations.
Burstedt M, Jonsson F, Köhn L, Burstedt M, Kivitalo M, Golovleva I
Acta Ophthalmol 2013 Aug;91(5):437-44. Epub 2012 May 2 doi: 10.1111/j.1755-3768.2012.02431.x. PMID: 22551409

Diagnosis

Genotype-phenotype correlations in Bothnia dystrophy caused by RLBP1 gene sequence variations.
Burstedt M, Jonsson F, Köhn L, Burstedt M, Kivitalo M, Golovleva I
Acta Ophthalmol 2013 Aug;91(5):437-44. Epub 2012 May 2 doi: 10.1111/j.1755-3768.2012.02431.x. PMID: 22551409

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...