Trait

Corneal guttata

Corneal guttata are droplet-like accumulations of non-banded collagen on the posterior surface of Descemet's membrane. The presence of focal thickenings of Descemet's membrane histologically named guttae. Cornea guttata can be easily diagnosed in vivo and ex vivo by means of specular microscopy as it gives dark areas where no endothelial cells are visible.

HPO HP:0012038

Also called: Corneal endothelial guttata, Corneal guttae
Body system: Abnormality of the eye

Reference genomeGRCh38hg38

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6 genes linked to Corneal guttata

Changes in these genes cause rare conditions in which Corneal guttata is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.

Gene	How often it is seen	Conditions
AGBL1AGBL carboxypeptidase 1	Always	In 1 condition
SLC4A11solute carrier family 4 member 11	Always	In 1 condition
KCNJ13potassium inwardly rectifying channel subfamily J member 13	Very often (80–99%)	In 1 condition
COL8A2collagen type VIII alpha 2 chain	Not recorded	In 1 condition
TCF4transcription factor 4	Not recorded	In 1 condition
ZEB1zinc finger E-box binding homeobox 1	Not recorded	In 2 conditions

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Broader traits

Abnormal Descemet membrane morphology

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
Data release 2026.10.16-c6eea6bf.

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