congenital microcoria
Findings
No curated finding names congenital microcoria yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Congenital microcoria is a rare autosomal dominant ophthalmological disease caused by maldevelopment of the dilator muscle of the pupil that is characterized by small pupils (<2 mm in diameter) from birth, peripheral iris hypopigmentation and transillumination defects leading to errors of refraction (myopia, astigmatism) and sometimes juvenile open angle glaucoma.
Definition from the Mondo Disease Ontology (MONDO:0007989), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
20 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.
- Abnormal pupillary light reflexHPOHP:0007695
- Very frequent (80% to 99% of cases)
- Hypoplastic iris stromaHPOHP:0007990
- Very frequent (80% to 99% of cases)
- Iris hypopigmentationHPOHP:0007730
- Very frequent (80% to 99% of cases)
- Iris transillumination defectHPOHP:0012805
- Very frequent (80% to 99% of cases)
- AstigmatismHPOHP:0000483
- Frequent (30% to 79% of cases)
- Axial myopiaHPOHP:0031730
- Frequent (30% to 79% of cases)
- Hemeralopia
Show the remaining 8
- BlindnessHPOHP:0000618
- Occasional (5% to 29% of cases)
- Blurred visionHPOHP:0000622
- Occasional (5% to 29% of cases)
- Corneal stromal edemaHPOHP:0012040
- Occasional (5% to 29% of cases)
- Developmental cataractHPOHP:0000519
- Occasional (5% to 29% of cases)
- MegalocorneaHPOHP:0000485
- Occasional (5% to 29% of cases)
- NyctalopiaHPOHP:0000662
- Occasional (5% to 29% of cases)
Where it sits
- A kind of
Other names
1 name
Resolves to: congenital microcoria
- Also called
- congenital miosis