macular dystrophy, retinal, 4
MONDO:0859568Mondo
Findings
No curated finding names macular dystrophy, retinal, 4 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
- Late onset · Middle age onset
HPO, annotations 2026-09-02
Features
4 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.
- NyctalopiaHPOHP:0000662
- 6 of 6 reported patients
- Reduced OCT-measured foveal thicknessHPOHP:0030619
- 5 of 6 reported patients
- Reduced visual acuityHPOHP:0007663
- 4 of 6 reported patients
- Choroidal neovascularizationHPOHP:0011506
- 2 of 6 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.
- CLEC3BHGNC:11891
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
Where it sits
- A kind of