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GTR Home > Conditions/Phenotypes > Retinal macular dystrophy type 2

Retinal macular dystrophy type 2

Synonyms
Bull's eye macular dystrophy

Summary

A rare, genetic macular dystrophy disorder characterised by slowly progressive bull''s eye maculopathy associated, in most cases, with mild decrease in visual acuity and central scotomata. Usually, only the central retina is involved, however some cases of more widespread rod and cone anomalies have been reported. Rare additional features include empty sella turcica, impaired olfaction, renal infections, haematuria and recurrent miscarriages. Caused by mutation in the prominin-1 gene (PROM1). [from SNOMEDCT_US]

Available tests

34 tests are in the database for this condition.

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Clinical tests (34 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AC133, CD133, CORD12, MCDR2, MSTP061, PROML1, RP41, STGD4, PROM1
    Summary: prominin 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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