achromatopsia 6

A cone dystrophy that is characterized by reduced visual acuity, photoaversion, night blindness, and abnormal color vision and that has_material_basis_in mutation in the gene encoding the gamma subunit of cone cGMP-phosphodiesterase (PDE6H) on chromosome 12p13

A cone dystrophy that is characterized by reduced visual acuity, photoaversion, night blindness, and abnormal color vision and that has_material_basis_in mutation in the gene encoding the gamma subunit of cone cGMP-phosphodiesterase (PDE6H) on chromosome 12p13.

Signs and symptoms

• Abnormal light-adapted flicker electroretinogram
• Photophobia
• Reduced visual acuity
• Dyschromatopsia
• High myopia
• Nystagmus
• Cone dystrophy
• Nyctalopia

Also known as: retinal cone dystrophy 3A