retinitis pigmentosa 58

A retinitis pigmentosa that has_material_basis_in mutation in the ZNF513 gene on chromosome 2p23.

Signs and symptoms

• Nyctalopia
• Macular degeneration
• Severely reduced visual acuity
• Abnormal light- and dark-adapted electroretinogram
• Peripheral visual field loss
• Optic disc pallor
• Attenuation of retinal blood vessels
• Spicular pigmentation of the retina
• Rod-cone dystrophy

Also known as: RP58