retinitis pigmentosa 84

info · Genetic

A retinitis pigmentosa characterized by onset of night blindness between ages 3 and 4 years and complete blindness as early as age 7 that has_material_basis_in homozygous or compound heterozygous mutation in the DHX38 gene on chromosome 16q22.2.

Signs and symptoms

Spicular pigmentation of the retina
Nyctalopia
Visual acuity no light perception
Macular atrophy
Rod-cone dystrophy
Attenuation of retinal blood vessels
Macular pseudocoloboma
Cataract

Also known as: RP84