Related Experiment Video

Updated: Jan 28, 2026

Efficient and Scalable Directed Differentiation of Clinically Compatible Corneal Limbal Epithelial Stem Cells from Human Pluripotent Stem Cells
10:07

Efficient and Scalable Directed Differentiation of Clinically Compatible Corneal Limbal Epithelial Stem Cells from Human Pluripotent Stem Cells

Published on: October 24, 2018

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PAX6 Deficiency Compromises the Ability of Limbal Epithelial Stem Cells to Properly Differentiate Into Mature Corneal

Parisa Foroozandeh1, Nihal Kaplan1, Xiaolin Qi1

  • 1Department of Dermatology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, United States.

Investigative Ophthalmology & Visual Science
|January 27, 2026
PubMed
Abstract

Insights

Aniridia-associated keratopathy (AAK) may stem from an overabundance of dysfunctional limbal epithelial stem cells (LESCs) and early transient amplifying cells (eTACs). These cells show impaired corneal epithelial differentiation, hindering effective treatment development.

Area of Science:

  • Ophthalmology
  • Genetics
  • Stem Cell Biology

Background:

  • Aniridia, caused by PAX6 mutations, leads to aniridia-associated keratopathy (AAK), characterized by limbal stem cell deficiency.
  • Understanding molecular changes in AAK corneas is crucial for developing targeted therapies.

Purpose of the Study:

  • To investigate the transcriptomic alterations in the cornea and limbus of a mouse model of AAK using single-cell RNA sequencing.
  • To identify cellular and molecular mechanisms underlying AAK pathogenesis.

Main Methods:

  • Single-cell RNA sequencing (scRNA-seq) was performed on corneal and limbal tissues from wild-type (WT) and Pax6 heterozygous (Pax6 het) mice.
  • Immunostaining was utilized to validate the expression of specific stem cell markers.

Main Results:

  • scRNA-seq revealed an increased population of limbal epithelial stem cell-like (LESC-like) and early transient amplifying cell-like (eTAC-like) clusters in Pax6 het mouse corneas.
  • Increased expression of markers like Tmem176b, Apoe, and Krt15 was observed in Pax6 het mice, indicating a higher number of LESC/eTAC-like cells.
  • Pax6 deficiency impaired gene expression related to cell proliferation in eTAC-like cells and hindered corneal epithelial cell fate and differentiation.

Conclusions:

  • AAK pathogenesis may involve an expansion of dysfunctional LESC/eTAC-like cells.
  • These cells exhibit defects in corneal epithelial cell fate commitment and differentiation.
  • This study provides single-cell resolution insights into the molecular basis of AAK.

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