retinitis pigmentosa 95

A retinitis pigmentosa characterized by pale optic discs, attenuation of retinal vessels, and atrophy of the retinal pigment epithelium with bone-spicule pigmentation that has_material_basis_in homozygous or compound heterozygous mutation in the RAX2 gene on c

A retinitis pigmentosa characterized by pale optic discs, attenuation of retinal vessels, and atrophy of the retinal pigment epithelium with bone-spicule pigmentation that has_material_basis_in homozygous or compound heterozygous mutation in the RAX2 gene on chromosome 19p13.

Signs and symptoms

• Constriction of peripheral visual field
• Reduced visual acuity
• Attenuation of retinal blood vessels
• Optic disc pallor
• Spicular pigmentation of the retina
• Perifoveal ring of hyperautofluorescence

Also known as: RP95