retinitis pigmentosa 19

A retinitis pigmentosa that has_material_basis_in mutation in the ABCA4 gene on chromosome 1p22.

Signs and symptoms

• Constriction of peripheral visual field
• Spicular pigmentation of the retina
• Nyctalopia
• Reduced visual acuity
• Visual impairment
• Rod-cone dystrophy
• Optic disc pallor
• Attenuation of retinal blood vessels
• Retinal pigment epithelial atrophy
• Abnormal electroretinogram

Also known as: RP19