retinitis pigmentosa 46

A retinitis pigmentosa that has_material_basis_in mutation in the IDH3B gene on chromosome 20p13.

Signs and symptoms

• Constriction of peripheral visual field
• Pigmentary retinopathy
• Visual impairment
• Rod-cone dystrophy
• Optic disc pallor
• Attenuation of retinal blood vessels
• Decreased light- and dark-adapted electroretinogram amplitude
• Posterior subcapsular cataract

Also known as: RP46