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GTR Home > Conditions/Phenotypes > Stargardt disease 3

Stargardt disease 3

Synonyms
MACULAR DYSTROPHY WITH FLECKS, TYPE 3; STARGARDT-LIKE MACULAR DYSTROPHY, AUTOSOMAL DOMINANT

Summary

Stargardt disease-3 (STGD3) is an autosomal dominant juvenile macular dystrophy with onset most commonly in the second decade of life. Fundus examination reveals macular pigmentary changes and yellow flecks. Fluorescein angiography shows macular retinal pigment epithelium (RPE) defects (Bernstein et al., 2001; Maugeri et al., 2004). [from OMIM]

Available tests

44 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (44 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ADMD, CT118, ISQMR, SCA34, STGD2, STGD3, ELOVL4
    Summary: ELOVL fatty acid elongase 4

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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