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dominant cone-rod dystrophy

Genetics: - see more specific types - associated with defects in GUCY2D gene (CORD6) - associated with defects in RPGRIP1 gene (CORD9) - associated with defects in RAXL1 gene (CORD11) - associated with defects in PRPH2 gene Clinical manifestations: - initial degeneration of cone photoreceptor cells, thus causing early loss of visual acuity & color vision, followed by degeneration of rod photoreceptor cells leading to progressive night blindness & peripheral visual field loss

Specific

dominant cone-rod dystrophy type 6 (CORD6) dominant cone-rod dystrophy type 9 (CORD9)

General

cone-rod dystrophy (CORD)

References

  1. OMIM :accession 601777
  2. OMIM :accession 608194