combined hamartoma of the retina and retinal pigment epithelium
MONDO:0018607Mondo
Findings
No curated finding names combined hamartoma of the retina and retinal pigment epithelium yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
7 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.
- BlindnessHPOHP:0000618
- Very frequent (80% to 99% of cases)
- ExotropiaHPOHP:0000577
- Very frequent (80% to 99% of cases)
- Abnormal optic disc morphologyHPOHP:0012795
- Occasional (5% to 29% of cases)
- Nasolacrimal duct obstructionHPOHP:0000579
- Occasional (5% to 29% of cases)
- Reduced visual acuityHPOHP:0007663
- Occasional (5% to 29% of cases)
- Retinal vascular tortuosityHPOHP:0012841
- Occasional (5% to 29% of cases)
- VitreoretinopathyHPOHP:0007773
- Occasional (5% to 29% of cases)
Where it sits
- A kind of
Other names
2 names
Resolves to: combined hamartoma of the retina and retinal pigment epithelium
- Also called
- CHR-RPEcombined hamartoma of the retina and RPE