dominant cone-rod dystrophy type 6 (CORD6)

Pathology

• degeneration of cone photoreceptor cells, followed by
• degeneration of rod photoreceptor cells

Genetics

• mutation in GUCY2D gene

Clinical manifestations

• early loss of visual acuity & color vision (cones)
• night blindness and peripheral visual field loss (rods)
• phenotypic heterogeneity

More general terms

• dominant cone-rod dystrophy

Additional terms

• guanylate cyclase 2D (retinal guanylyl cyclase, GUCY2D)

Database

• OMIM: https://mirror.omim.org/entry/601777