retinitis pigmentosa 78

A retinitis pigmentosa characterized by central visual disturbance, visual field defects, and nyctalopia that has_material_basis_in homozygous or compound heterozygous mutation in the ARHGEF18 gene on chromosome 19p13.

Signs and symptoms

• Nyctalopia
• Visual field defect
• Reduced visual acuity
• Photopsia
• Cystoid macular edema
• Optic disc pallor

Also known as: RP78