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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): Gene(s) directly associated with this condition or phenotype.	RLBP1 (15q26.1)

Monarch Initiative:	MONDO:0011838
OMIM®:	607475
Orphanet:	ORPHA85128

Definition

Caused by mutation in the gene encoding retinaldehyde-binding protein-1. A high frequency of a distinctive form of retinal dystrophy was found to occur in northern Sweden. Typical manifestations are night blindness from early childhood and in young adults retinitis punctata albescens was observed followed by macular degeneration. [from SNOMEDCT_US]

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.

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Night blindness

MedGen UID:: 10349
•Concept ID:: C0028077
•: Disease or Syndrome

Inability to see well at night or in poor light.

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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.

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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.

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Abnormality of the eye

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVRetinitis pigmentosa

Pathological process
- Disease
  - Disorder by Site
    - Disorder of orbital region
      - Hereditary eye diseases
        Retinitis pigmentosa
        Bothnia retinal dystrophy

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

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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

See all (1)

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

See all (1)

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Bothnia retinal dystrophy

Definition

Clinical features

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

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Molecular resources

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