isolated congenital megalocornea
Findings
No curated finding names isolated congenital megalocornea yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Isolated congenital megalocornea is a genetic, non-syndromic developmental defect of the anterior eye segment characterized by bilateral enlargement of the corneal diameter (>12.5 mm) and a deep anterior eye chamber, without an elevation in intraocular pressure. It can manifest with mild to moderate myopia as well as photophobia and iridodonesis (due to iris hypoplasia). Associated complications include lens dislocation, retinal detachment, presenile cataract development, and secondary glaucoma.
Definition from the Mondo Disease Ontology (MONDO:0010649), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
HPO, annotations 2026-09-02
Features
9 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.
- Iris transillumination defectHPOHP:0012805
- 8 of 8 reported patients
- MegalocorneaHPOHP:0000485
- 16 of 16 reported patients · Congenital onset
- Reduced visual acuityHPOHP:0007663
- 16 of 16 reported patients
- Corneal arcusHPOHP:0001084
- 10 of 16 reported patients
- Abnormal intraocular pressureHPOHP:0012632
- 0 of 8 reported patients
- CataractHPOHP:0000518
- Decreased corneal thicknessHPOHP:0100689
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.
- CHRDL1HGNC:29861
- Definitive · G2P · X-linked · 2017
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2022
- Supportive · Orphanet · X-linked · 2021
Where it sits
- A kind of
Other names
2 names
Resolves to: isolated congenital megalocornea
- Also called
- congenital anterior megalophthalmiamegalocornea 1, X-linked, X-linked recessive