retinitis pigmentosa 62
MONDO:0013611Mondo
Findings
No curated finding names retinitis pigmentosa 62 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 MAK gene.
Definition from the Mondo Disease Ontology (MONDO:0013611), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Middle age onset · Young adult 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.
- Reduced visual acuityHPOHP:0007663
- 8 of 8 reported patients
- Visual field defectHPOHP:0001123
- 7 of 7 reported patients
- NyctalopiaHPOHP:0000662
- 7 of 8 reported patients
- Spicular pigmentation of the retinaHPOHP:0007737
- 3 of 4 reported patients
- Attenuation of retinal blood vesselsHPOHP:0007843
- 4 of 8 reported patients
- Optic disc pallorHPOHP:0000543
- 2 of 8 reported patients
- Bull's eye maculopathyHPO
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.
- MAKHGNC:6816
- Definitive · G2P · Autosomal recessive · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
Other names
4 names
Resolves to: retinitis pigmentosa 62
- Also called
- MAK retinitis pigmentosaretinitis pigmentosa caused by mutation in MAKretinitis pigmentosa type 62RP62