cone-rod dystrophy 6

cone-rod dystrophy 6

An inherited pigmentary retinopathy (OMIM:601777) characterised by pigment deposits primarily in the macular region that are seen on fundus examination, with early loss of cone photoreceptors followed by rod degeneration. With time, there is a loss of visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision; severe loss of vision occurs earlier than in retinitis pigmentosa.

Molecular pathology
Defects in GUCY2D, which encodes a retina-specific guanylate cyclase, cause cone-rod dystrophy-6.