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Stargardt disease 3

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Description

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).

OMIM

  • Mode of Inheritance

  • Autosomal dominant inheritance

VARIANTS

63

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Genes

External Links

  • OMIM

    600110

  • Orphanet
  • HPO
  • Medgen

    C1838644

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