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Keratoconus in a child with partial trisomy 13.

Julia Ernst1,2,3, Amgad Eldib1,2, Hannah L Scanga1,2

  • 1UPMC Eye Center, Pittsburgh, Pennsylvania, USA.

Ophthalmic Genetics
|April 16, 2021
PubMed
Summary

This case report details a child with partial trisomy 13 who developed bilateral keratoconus. Successful corneal cross-linking (CXL) treatment was achieved, highlighting the importance of early diagnosis and intervention for this rare condition.

Keywords:
Keratoconuscorneal collagen cross-linkingpartial trisomy 13

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Area of Science:

  • Ophthalmology
  • Genetics
  • Pediatrics

Background:

  • Keratoconus etiology is complex, with genetic factors implicated but specific genes often elusive.
  • Partial trisomy 13 is a rare chromosomal disorder.
  • This study investigates a unique case linking partial trisomy 13 to keratoconus.

Observation:

  • A child diagnosed with partial trisomy 13 (70 Mb region 13q14.11q34) presented with bilateral keratoconus.
  • The patient underwent sequential epithelium-off corneal cross-linking (CXL) in both eyes under general anesthesia.
  • Pre-treatment corneal measurements showed significant thinning and high K values, indicative of advanced keratoconus.

Findings:

  • Post-CXL treatment, corneal pachymetry and maximum K values improved in both eyes.
  • No signs of keratoconus progression were observed at the 12-month follow-up.
  • Successful CXL was achieved despite the patient's underlying genetic condition and need for general anesthesia.

Implications:

  • This is the first reported case of bilateral keratoconus in a child with partial trisomy 13.
  • Early screening, diagnosis, and timely therapeutic intervention, such as CXL, are crucial for managing vision loss in patients with partial trisomy 13.
  • This case underscores the importance of considering genetic syndromes in the differential diagnosis of pediatric keratoconus.