Conditions / Eye
retinitis pigmentosa 54
info · Eye · ICD-10: H35.5
A retinitis pigmentosa that has_material_basis_in mutation in the C2ORF71 gene on chromosome 2p23.
Signs and symptoms
- Spicular pigmentation of the retina
- Atrophic fundus lesion
- Nyctalopia
- Visual impairment
- Rod-cone dystrophy
- Attenuation of retinal blood vessels
- Abnormal electroretinogram
Also known as: RP54