retinitis pigmentosa 89

info · Genetic

A retinitis pigmentosa characterized by onset of retinitis pigmentosa in the first decade of life and additional features of ciliopathy that has_material_basis_in heterozygous mutation in the KIF3B gene on chromosome 20q11.21.

Signs and symptoms

Constriction of peripheral visual field
Nyctalopia
Hyperautofluorescent retinal lesion
Abnormal light-adapted flicker electroretinogram
Retinal thinning on OCT
Postaxial polydactyly
Rod-cone dystrophy
Hepatic fibrosis
Esophageal varix
Intrahepatic bile duct dilatation

Also known as: RP89