Newfoundland cone-rod dystrophy
Findings
No curated finding names Newfoundland cone-rod dystrophy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any cone-rod dystrophy in which the cause of the disease is a mutation in the RLBP1 gene.
Definition from the Mondo Disease Ontology (MONDO:0011839), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
8 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Color vision defectHPOHP:0000551
- 20 of 20 reported patients
- NyctalopiaHPOHP:0000662
- 26 of 26 reported patients · Infantile onset
- Reduced visual acuityHPOHP:0007663
- 26 of 26 reported patients
- ScotomaHPOHP:0000575
- 23 of 24 reported patients
- Ring scotomaHPOHP:0030529
- 8 of 26 reported patients
- Central scotomaHPOHP:0000603
- 6 of 26 reported patients
- Spicular pigmentation of the retinaHPO
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- RLBP1HGNC:10024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · G2P · Autosomal recessive · 2017
Where it sits
Other names
3 names
Resolves to: Newfoundland cone-rod dystrophy
- Also called
- cone-rod dystrophy caused by mutation in RLBP1NFRCDRLBP1 cone-rod dystrophy