retinitis pigmentosa 40

A retinitis pigmentosa that has_material_basis_in mutation in the PDE6B gene on chromosome 4p16.

Signs and symptoms

• Spicular pigmentation of the retina
• Nyctalopia
• Cataract
• Abnormal light- and dark-adapted electroretinogram
• Attenuation of retinal blood vessels
• Rod-cone dystrophy

Also known as: RP40