patterned macular dystrophy 2
Findings
No curated finding names patterned macular dystrophy 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any patterned macular dystrophy in which the cause of the disease is a mutation in the CTNNA1 gene.
Definition from the Mondo Disease Ontology (MONDO:0012162), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Middle age onset · Juvenile onset · Young adult onset
HPO, annotations 2026-09-02
Features
3 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.
- Pattern dystrophy of the retinaHPOHP:0007963
- 11 of 14 reported patients
- Reduced visual acuityHPOHP:0007663
- 6 of 9 reported patients
- Foveal hyperpigmentationHPOHP:0008001
- 3 of 14 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.
- CTNNA1HGNC:2509
- Definitive · G2P · Autosomal dominant · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2017
- Limited · Ambry Genetics · Autosomal dominant · 2024
Where it sits
- A kind of
Other names
5 names
Resolves to: patterned macular dystrophy 2
- Also called
- CTNNA1 patterned macular dystrophymacular dystrophy, patterned, type 2MDPT2patterned macular dystrophy caused by mutation in CTNNA1patterned macular dystrophy type 2