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Updated: May 26, 2026

Anterior High-Resolution Optical Coherence Tomography in the Diagnosis and Therapeutic Monitoring of Ocular Surface Squamous Neoplasia
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Published on: August 9, 2024

Familial peripheral keratopathy without PAX6 mutation.

Wendy M Smith1, Julie M Lange, Amy C Sturm

  • 1Havener Eye Institute, Department of Ophthalmology, The Ohio State University, Columbus, OH 43212, USA.

Cornea
|December 8, 2011
PubMed
Summary

A rare familial corneal disease shows stem cell dysfunction and peripheral keratopathy, but PAX6 gene mutations were not identified, suggesting a distinct genetic cause unrelated to aniridia.

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Area of Science:

  • Ophthalmology
  • Genetics
  • Corneal diseases

Background:

  • Familial peripheral keratopathy presents with corneal stem cell dysfunction.
  • Phenotypic similarities to aniridia-related keratopathy suggest a potential role for PAX6 mutations.

Purpose of the Study:

  • Describe clinical features of a familial corneal stem cell abnormality.
  • Investigate the role of PAX6 mutations in affected family members.

Main Methods:

  • Evaluated a multi-generational family with peripheral keratopathy.
  • Performed germline DNA sequencing and genotyping for PAX6 mutations and regional markers.
  • Collected DNA from affected and unaffected family members.

Main Results:

  • Autosomal dominant peripheral corneal abnormality with progressive stem cell dysfunction observed.
  • Corectopia and ectropion uvea noted in some individuals, but no severe iris or macular hypoplasia.
  • Genotyping indicated the PAX6 region does not segregate with the disease phenotype.

Conclusions:

  • The familial corneal abnormality shares some features with aniridia but lacks classic aniridia characteristics.
  • PAX6 mutational screening and genotyping did not confirm its role in this phenotype.
  • This condition appears to be a distinct clinical and genetic entity, separate from aniridia.