retinitis pigmentosa 14

A retinitis pigmentosa that has_material_basis_in mutation in the TULP1 gene on chromosome 6p21.

Signs and symptoms

• Undetectable electroretinogram
• Nyctalopia
• Nystagmus
• Reduced visual acuity
• Rod-cone dystrophy
• Posterior subcapsular cataract
• Constriction of peripheral visual field
• Spicular pigmentation of the retina
• Focal retinal arteriolar constriction
• Optic disc pallor

Also known as: RP14