Conditions / Genetic
Newfoundland cone-rod dystrophy
info · Genetic
A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the RLBP1 gene on chromosome 15q26.
Signs and symptoms
- Nyctalopia
- Color vision defect
- Reduced visual acuity
- Scotoma
- Retinal dystrophy
- Ring scotoma
- Central scotoma
- Spicular pigmentation of the retina
Also known as: NFRCD