Cone cGMP specific 3' 5' cyclic phosphodiesterase subunit alpha'
Cone cGMP-specific 3''
PDE6 alpha prime
Phosphodiesterase 6C cGMP specific cone alpha prime
Involvement in disease
Defects in PDE6C are the cause of cone dystrophy type 4 (COD4) [MIM:613093]. An early-onset cone dystrophy. Cone dystrophies are retinal dystrophies characterized by progressive degeneration of the cone photoreceptors with preservation of rod function, as indicated by electroretinogram. However, some rod involvement may be present in some cone dystrophies, particularly at late stage. Affected individuals suffer from photophobia, loss of visual acuity, color vision and central visual field. Another sign is the absence of macular lesions for many years. Cone dystrophies are distinguished from the cone-rod dystrophies in which some loss of peripheral vision also occurs.
Belongs to the cyclic nucleotide phosphodiesterase family. Contains 2 GAF domains.