retinitis pigmentosa 49

A retinitis pigmentosa that has_material_basis_in mutation in the CNGA1 gene on chromosome 4p12.

Signs and symptoms

• Spicular pigmentation of the retina
• Nyctalopia
• Reduced visual acuity
• Peripheral visual field loss
• Optic disc pallor
• Attenuation of retinal blood vessels
• Rod-cone dystrophy

Also known as: RP49