autosomal dominant keratitis
Findings
No curated finding names autosomal dominant keratitis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Hereditary keratitis is characterized by opacification and vascularisation of the cornea, often associated with macula hypoplasia.
Definition from the Mondo Disease Ontology (MONDO:0007848), read 2026-09-29. CC BY 4.0.
Features
16 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.
- KeratitisHPOHP:0000491
- Obligate (100% of cases)
- Abnormal corneal limbus morphologyHPOHP:0025348
- Frequent (30% to 79% of cases)
- Abnormality of refractionHPOHP:0000539
- Frequent (30% to 79% of cases)
- Corneal neovascularizationHPOHP:0011496
- Frequent (30% to 79% of cases)
- Hypoplasia of the foveaHPOHP:0007750
- Frequent (30% to 79% of cases)
- Hypoplastic iris stromaHPOHP:0007990
- Frequent (30% to 79% of cases)
- Limbal stem cell deficiencyHPOHP:0032107
- Frequent (30% to 79% of cases)
- Macular hypoplasiaHPOHP:0001104
- Frequent (30% to 79% of cases)
- Opacification of the corneal stromaHPOHP:0007759
- Frequent (30% to 79% of cases)
- Reduced visual acuityHPOHP:0007663
- Frequent (30% to 79% of cases)
- AniridiaHPOHP:0000526
- Occasional (5% to 29% of cases)
- Bilateral microphthalmosHPOHP:0007633
- Occasional (5% to 29% of cases)
Show the remaining 4
- CataractHPOHP:0000518
- Occasional (5% to 29% of cases)
- ColobomaHPOHP:0000589
- Occasional (5% to 29% of cases)
- Congenital nystagmusHPOHP:0006934
- Occasional (5% to 29% of cases)
- MicrocorneaHPOHP:0000482
- Occasional (5% to 29% of cases)
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.
- PAX6HGNC:8620
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2020
Where it sits
Other names
2 names
Resolves to: autosomal dominant keratitis
- Also called
- hereditary keratitiskeratitis, autosomal dominant