Posterior corneal dystrophy

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Posterior corneal dystrophy

ORPHA:98627Category

What it is

Posterior corneal dystrophies refers to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal endothelium and Descemet membrane, and variable effects on vision depending on the type of dystrophy.

Key facts

Age of onset
All ages
Inheritance
Autosomal dominant, Autosomal recessive, X-linked recessive
Classified as
Category

Genes reported in subtypes

AGBL1COL8A2GRHL2OVOL2SLC4A11TCF4VSX1ZEB1

Orphanet records these genes on 3 more specific entries under this disorder, not on this entry itself:

A well-studied disease is usually split into subtypes, and the gene is curated on whichever one the evidence belongs to. Open a subtype to see which gene goes with it.

Cross-references

MONDO 0020214UMLS C2063478

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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