patterned macular dystrophy 1
MONDO:0008210Mondo
Findings
No curated finding names patterned macular dystrophy 1 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 PRPH2 gene.
Definition from the Mondo Disease Ontology (MONDO:0008210), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
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.
- Pattern dystrophy of the retinaHPOHP:0007963
- 6 of 6 reported patients
- Yellow/white retinal lesionHPOHP:0030506
- 5 of 6 reported patients
- Reduced visual acuityHPOHP:0007663
- 3 of 6 reported patients
- Dark choroidHPOHP:0025148
- 2 of 6 reported patients
- Absent foveal reflexHPOHP:0030825
- 1 of 6 reported patients
Where it sits
Other names
6 names
Resolves to: patterned macular dystrophy 1
- Also called
- macular dystrophy, butterfly-shaped pigmentarymacular dystrophy, patterned, type 1MDPT1patterned macular dystrophy caused by mutation in PRPH2patterned macular dystrophy type 1PRPH2 patterned macular dystrophy