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Any cone-rod dystrophy in which the cause of the disease is a mutation in the RLBP1 gene.
Features include always present findings: Nyctalopia, Color vision defect, and Reduced visual acuity; and very common findings: Scotoma. 8 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Eyes | 2 | Color vision defect, Retinal dystrophy |
RLBP1 function has not been fully characterized.
Newfoundland cone-rod dystrophy is associated with mutations in the RLBP1 gene on chromosome 15.
Genetic testing for RLBP1 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 3 always present features, 1 very common feature, 1 common feature.
Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 3:01 PM UTC
Online Mendelian Inheritance in Man
Common questions about Newfoundland cone-rod dystrophy
1 |
Bone spicule pigmentation of the retina |
Age of onset: infancy.