retinitis pigmentosa 43

A retinitis pigmentosa that has_material_basis_in mutation in the PDE6A gene on chromosome 5q31-q33.

Signs and symptoms

• Spicular pigmentation of the retina
• Nyctalopia
• Pigmentary retinopathy
• Visual impairment
• Peripheral visual field loss
• Optic disc pallor
• Attenuation of retinal blood vessels
• Rod-cone dystrophy
• Posterior subcapsular cataract
• Abnormal electroretinogram

Also known as: RP43