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

More general terms

• cone-rod dystrophy (CORD)

More specific terms

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