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GTR Home > Conditions/Phenotypes > Bothnia retinal dystrophy

Bothnia retinal dystrophy

Synonyms
VASTERBOTTEN DYSTROPHY
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

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]

Available tests

44 tests are in the database for this condition.

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Clinical tests (44 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CRALBP, RLBP1
    Summary: retinaldehyde binding protein 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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