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.
References in periodicals archive ?
In case 2, a rare, predicted-pathogenic variant was noted in the protein kinase domain of GUCY2D (p.Glu779Lys), associated with autosomal dominant cone-rod dystrophy 6 [MIM #601777] [37, 38].