macular dystrophy, retinal, 3
MONDO:0012139Mondo
Findings
No curated finding names macular dystrophy, retinal, 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile 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.
- Macular drusenHPOHP:0030499
- 7 of 10 reported patients
- Hyperautofluorescent macular lesionHPOHP:0030631
- 2 of 3 reported patients
- Retinal pigment epithelial atrophyHPOHP:0007722
- 6 of 10 reported patients
- Color vision defectHPOHP:0000551
- 4 of 8 reported patients
- Reduced visual acuityHPOHP:0007663
- 4 of 8 reported patients
- Retinal neovascularizationHPOHP:0030666
- 3 of 10 reported patients
- Central scotomaHPOHP:0000603
- 2 of 7 reported patients
- Abnormal electroretinogramHPOHP:0000512
- 0 of 8 reported patients
Where it sits
- A kind of
Other names
1 name
Resolves to: macular dystrophy, retinal, 3
- Also called
- macular dystrophy, retinal, type 3