Variants
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Pigmentary retinal dystrophy

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Description

This form of fleck retina disease (see 228980) is characterized by discrete uniform white dots over the entire fundus with greatest density in the midperiphery and no macular involvement. Night blindness occurs. Both autosomal dominant and autosomal recessive inheritance had been suggested (Krill and Folk, 1962; Krill, 1977).

OMIM

  • Mode of Inheritance

  • Autosomal dominant inheritance
  • Autosomal recessive inheritance

VARIANTS

178

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Genes

External Links

  • OMIM

    136880

  • Orphanet

    227796

  • Medgen

    C0311338

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