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GTR Home > Conditions/Phenotypes > Helicoid peripapillary chorioretinal degeneration

Helicoid peripapillary chorioretinal degeneration

Synonyms
ATROPHIA AREATA; HELICOIDAL PERIPAPILLARY CHORIORETINAL DEGENERATION; PERIPAPILLARY CHORIORETINAL DEGENERATION, ICELANDIC TYPE; Sveinsson chorioretinal atrophy
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Sveinsson chorioretinal atrophy (SCRA) is characterized by bilateral, well-defined, tongue-shaped strips of atrophic retina and choroid that extend from the optic nerve into the peripheral ocular fundus. The lesions may be evident at birth and usually progress at a variable rate, sometimes leading to central visual loss. Separate small distinct circular atrophic lesions are observed in the peripheral ocular fundus in some patients. Congenital anterior polar cataracts are found in approximately 25% of affected individuals (summary by Jonasson et al., 2007). [from OMIM]

Available tests

14 tests are in the database for this condition.

Clinical tests (14 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AA, NTEF-1, REF1, TCF-13, TCF13, TEAD-1, TEF-1, TEAD1
    Summary: TEA domain transcription factor 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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