Conditions / Eye
retinitis pigmentosa 32
info · Eye · ICD-10: H35.5
A retinitis pigmentosa that has_material_basis_inhomozygous mutation in the CLCC1 gene on chromosome 1p13.
Signs and symptoms
- Undetectable electroretinogram
- Spicular pigmentation of the retina
- Nyctalopia
- Pigmentary retinopathy
- Photoreceptor layer loss on macular OCT
- Photophobia
- Retinal degeneration
- Reduced visual acuity
- Optic disc pallor
- Attenuation of retinal blood vessels
Also known as: RP32