retinitis pigmentosa 80

A retinitis pigmentosa that has_material_basis_in homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13.

Signs and symptoms

• Spicular pigmentation of the retina
• Nyctalopia
• Progressive visual loss
• Blindness
• Macular atrophy
• Attenuation of retinal blood vessels
• Global developmental delay
• Cone-shaped epiphyses of the phalanges of the hand

Also known as: RP80