retinitis pigmentosa 74

A retinitis pigmentosa that has_material_basis_in mutation in the BBS2 gene on chromosome 16q13.

Signs and symptoms

• Reduced visual acuity
• Rod-cone dystrophy
• Constriction of peripheral visual field
• Pigmentary retinopathy
• Optic disc pallor
• Posterior polar cataract
• Polydactyly
• Obesity
• Abnormal renal morphology

Also known as: RP74