vitelliform macular dystrophy 3
Findings
No curated finding names vitelliform macular dystrophy 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any vitelliform macular dystrophy in which the cause of the disease is a mutation in the PRPH2 gene.
Definition from the Mondo Disease Ontology (MONDO:0024561), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Late young adult onset
HPO, annotations 2026-09-02
Features
5 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.
- MetamorphopsiaHPOHP:0012508
- 1 of 1 reported patient
- Reduced visual acuityHPOHP:0007663
- 1 of 1 reported patient
- Visual impairmentHPOHP:0000505
- 1 of 1 reported patient · Adult onset
- Vitelliform macular lesionHPOHP:0007677
- 1 of 1 reported patient
- Color vision defectHPOHP:0000551
- 0 of 1 reported patient
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.
- PRPH2HGNC:9942
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
Where it sits
Other names
2 names
Resolves to: vitelliform macular dystrophy 3
- Also called
- PRPH2 vitelliform macular dystrophyvitelliform macular dystrophy caused by mutation in PRPH2