retinitis pigmentosa 69
MONDO:0014345Mondo
Findings
No curated finding names retinitis pigmentosa 69 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any retinitis pigmentosa in which the cause of the disease is a mutation in the KIZ gene.
Definition from the Mondo Disease Ontology (MONDO:0014345), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset
HPO, annotations 2026-09-02
Features
6 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.
- NyctalopiaHPOHP:0000662
- 3 of 3 reported patients
- Perifoveal hypoautofluorescenceHPOHP:0034272
- 1 of 1 reported patient
- Pigmentary retinopathyHPOHP:0000580
- 3 of 3 reported patients
- Rod-cone dystrophyHPOHP:0000510
- 3 of 3 reported patients
- Constriction of peripheral visual fieldHPOHP:0001133
- 2 of 3 reported patients
- Reduced visual acuityHPOHP:0007663
- 2 of 3 reported patients
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.
- KIZHGNC:15865
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
- Strong · G2P · Autosomal recessive · 2017
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
4 names
Resolves to: retinitis pigmentosa 69
- Also called
- KIZ retinitis pigmentosaretinitis pigmentosa caused by mutation in KIZretinitis pigmentosa type 69RP69