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Atypical superotemporal iris and retinal coloboma.

Katina N Patterson1, Margaret M Reynolds1, Gregg T Lueder1

  • 1Washington University in St. Louis, Department of Ophthalmology and Visual Sciences, Washington University School of Medicine in St. Louis, St. Louis, MO, 63110, USA.

American Journal of Ophthalmology Case Reports
|January 8, 2026
PubMed
Summary

This study details an infant with atypical supertemporal iris and retinal coloboma and associated systemic issues. Negative genetic sequencing highlights the need for further research into rare coloboma causes.

Area of Science:

  • Ophthalmology
  • Genetics
  • Pediatrics

Background:

  • Iris and retinal coloboma is a congenital abnormality.
  • Atypical presentations require thorough investigation for underlying causes.
Keywords:
Atypical colobomaCongenital abnormalitiesEmbryonic fissure closureGenome sequencing

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