retinitis pigmentosa 81

A retinitis pigmentosa that has_material_basis_in homozygous mutation in the IFT43 gene on chromosome 14q24.

Signs and symptoms

• Spicular pigmentation of the retina
• Nyctalopia
• Optic disc pallor
• Attenuation of retinal blood vessels
• Reduced visual acuity
• Retinal pigment epithelial atrophy