retinitis pigmentosa 76

A retinitis pigmentosa that has_material_basis_in homozygous or compound heterozygous mutation in the POMGNT1 gene on chromosome 1p34.

Signs and symptoms

• Constriction of peripheral visual field
• Nyctalopia
• Reduced visual acuity
• Retinal thinning on OCT
• Spicular pigmentation of the retina
• Peripapillary atrophy
• Hyperautofluorescent macular lesion
• Tigroid fundus
• Cystoid macular edema

Also known as: RP76