retinitis pigmentosa 93

A retinitis pigmentosa characterized by mild to moderate rod-cone dystrophy with onset in the second or third decade of life. Patients have constricted visual fields with macular sparing and show mildly reduced visual acuity with mild to high myopia that has_m

A retinitis pigmentosa characterized by mild to moderate rod-cone dystrophy with onset in the second or third decade of life. Patients have constricted visual fields with macular sparing and show mildly reduced visual acuity with mild to high myopia that has_material_basis_in compound heterozygous mutation in the CC2D2A gene on chromosome 4p15.

Signs and symptoms

• Undetectable electroretinogram
• Constriction of peripheral visual field
• Reduced visual acuity
• Rod-cone dystrophy
• Retinal dots

Also known as: RP93