congenital glaucoma
Findings
No curated finding names congenital glaucoma yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A developmental glaucoma that results from the abnormal development of the aqueous drainage structure, characterized by an elevated intra-ocular pressure, enlargement of globe (buphthalmos), corneal edema and optic nerve cupping, and presenting clinically with the characteristic triad of epiphora, photophobia and blepharospasm.
Definition from the Mondo Disease Ontology (MONDO:0020366), read 2026-09-29. CC BY 4.0.
Genes
7 genes
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.
- THBS1HGNC:11785
- Strong · PanelApp Australia · Autosomal dominant · 2025
- CYP1B1HGNC:2597
- Supportive · Orphanet · Autosomal dominant · 2021
- LTBP2HGNC:6715
- Supportive · Orphanet · Autosomal dominant · 2021
- MYOCHGNC:7610
- Supportive · Orphanet · Autosomal dominant · 2021
- TEKHGNC:11724
- Supportive · Orphanet · Autosomal dominant · 2021
- HGNC:25720HGNC:25720
- Limited · G2P · Autosomal recessive · 2017
- TCF7L2HGNC:11641
- Limited · Ambry Genetics · Unknown · 2018
Where it sits
- A kind of
Other names
4 names
Resolves to: congenital glaucoma
- Also called
- buphthalmiabuphthalmosBuphthalmushydrophthalmos