retinopathy sensory neuropathy syndrome

A syndrome characterized by progressive visual impairment due to retinopathy (usually retinitis pigmentosa) and progressive sensory neuropathy resulting in distal sensory loss of various modalities (vibration, proprioception, pain) that has_material_basis_inho

A syndrome characterized by progressive visual impairment due to retinopathy (usually retinitis pigmentosa) and progressive sensory neuropathy resulting in distal sensory loss of various modalities (vibration, proprioception, pain) that has_material_basis_inhomozygous or compound heterozygous mutation in the FLVCR1 gene on chromosome 1q32.

Signs and symptoms

• Rod-cone dystrophy
• Areflexia
• Impaired proprioception
• Ataxia
• Spicular pigmentation of the retina
• Impaired vibration sensation in the lower limbs
• Nyctalopia
• Urinary incontinence
• Distal muscle weakness
• Pigmentary retinopathy

Also known as: PCARP; Posterior Column Ataxia with Retinitis Pigmentosa; posterior column ataxia-retinitis pigmentosa syndrome