Conditions / Genetic
retinitis pigmentosa 86
info ยท Genetic
A retinitis pigmentosa characterized by night blindness followed by progressive narrowing of visual fields and decline in visual acuity that has_material_basis_in mutation in the KIAA1549 gene on chromosome 7q34.
Signs and symptoms
- Spicular pigmentation of the retina
- Nyctalopia
- Progressive visual loss
- Attenuation of retinal blood vessels
- Nummular pigmentation of the retina
- Optic disc pallor
- Retinal pigment epithelial atrophy
- Hyperautofluorescent retinal lesion
- Cortical cataract
- Cystoid macular edema
Also known as: RP86