cornea plana
Findings
No curated finding names cornea plana yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare developmental defect of the eye characterized by usually bilateral absence of the normal protrusion of the cornea from the sclera, the corneal curvature being the same as that of the adjacent sclera. Most patients develop hyperopia, hazy corneal limbus, and arcus lipoides at an early age. The condition may present as an autosomal dominant or an autosomal recessive form, with the latter showing more severe signs and symptoms (such as a round and opaque thickening located centrally in the cornea) and more frequent association with other ocular anomalies.
Definition from the Mondo Disease Ontology (MONDO:0000733), read 2026-09-29. CC BY 4.0.
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.
- HGNC:6309HGNC:6309
- Definitive · G2P · Autosomal recessive · 2017
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
- Narrower terms (2)
Other names
2 names
Resolves to: cornea plana
- Also called
- congenital cornea planaflat cornea