X-linked juvenile retinoschisis 1

info · Genetic · ICD-10: Q14.1

A retinoschisis characterized by schisis (splitting) of the neural retina leading to reduced visual acuity in males due that has_material_basis_in the RS1 gene on chromosome Xp22.

Signs and symptoms

Mizuo phenomenon
Macular atrophy
Retinal pigment epithelial atrophy
Retinoschisis
Hypermetropia
Progressive visual loss
Retinal degeneration
ERG: Reduced dark-adapted b-wave amplitude
Peripheral cystoid retinal degeneration
Retinal atrophy

Also known as: X-linked juvenile retinoschisis; X-linked retinoschisis; XLRS