Peters anomaly

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Peters anomaly

ORPHA:708Morphological anomaly

Also called Peters congenital glaucoma

What it is

Peters anomaly (PA) is a congenital corneal opacity disorder characterized by a central corneal leukoma that obstructs the pupil leading to visual loss as well as absence of the posterior corneal stroma and Descemet membrane.

Key facts

Prevalence
<1 / 1 000 000
Age of onset
Infancy, Neonatal
Inheritance
Autosomal dominant, Autosomal recessive
Classified as
Morphological anomaly

Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.

Signs and symptoms

These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.

Genes

CYP1B1Disease-causing germline mutation(s)
FOXC1Disease-causing germline mutation(s)
FOXE3Disease-causing germline mutation(s)
PAX6Disease-causing germline mutation(s)
PITX2Candidate gene tested

ICD-10 codes

Q13.4filed under a broader ICD-10 category — shared with 2 other rare diseases

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Cross-references

GARD 7377MEDDRA 10059202MESH C537884MONDO 0011414OMIM 604229OMIM 612968UMLS C0344559

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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