myopia, high, with cataract and vitreoretinal degeneration
MONDO:0013670Mondo
Findings
No curated finding names myopia, high, with cataract and vitreoretinal degeneration yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Childhood 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.
- Mildly reduced visual acuityHPOHP:0032037
- 13 of 13 reported patients · Childhood onset
- CataractHPOHP:0000518
- 11 of 13 reported patients
- High myopiaHPOHP:0011003
- 9 of 11 reported patients · Childhood onset
- Peripheral vitreoretinal degenerationHPOHP:0200071
- 9 of 13 reported patients
- Vitreous floatersHPOHP:0100832
- 5 of 13 reported patients
- Retinal detachmentHPOHP:0000541
- 4 of 13 reported patients
- Lattice retinal degenerationHPOHP:0007992
- 3 of 13 reported patients
- Lens subluxationHPOHP:0001132
- 3 of 13 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.
- P3H2HGNC:19317
- Strong · G2P · Autosomal recessive · 2017
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
- A kind of