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Congenital primary aphakia.

Julia Ernst1, Anagha Medsinge2, Hannah L Scanga1

  • 1Department of Ophthalmology, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, Pennsylvania.

Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
|January 20, 2022
PubMed
Summary
This summary is machine-generated.

Congenital primary aphakia (CPA) in children presents with severe vision impairment and characteristic corneal and ocular anomalies. Early recognition and intervention for glaucoma are crucial, though surgical outcomes, including corneal transplants, are often poor.

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Area of Science:

  • Ophthalmology
  • Genetics
  • Pediatric Medicine

Background:

  • Congenital primary aphakia (CPA) is a rare condition affecting eye development.
  • Understanding its natural history and visual outcomes is critical for patient management.

Purpose of the Study:

  • To describe the natural history, management strategies, and visual outcomes in children diagnosed with CPA.
  • To identify key clinical and genetic features associated with CPA.

Main Methods:

  • A multicenter retrospective case series involving 14 patients (27 eyes) from five academic centers.
  • Data collected included clinical findings, genetic testing results (FOXE3 variants), and surgical interventions.

Main Results:

  • Most patients had bilateral CPA and presented with severe visual impairment (fixing and following light).
  • Common findings included corneal vascularization, glaucoma, iridocorneal adhesions, and optic nerve coloboma.
  • FOXE3 pathogenic variants were identified in 9 out of 11 tested patients.

Conclusions:

  • Corneal ectasia and vascularization suggest CPA; glaucoma requires prompt surgical consideration due to poor medical management outcomes.
  • Surgical interventions like penetrating keratoplasty (PKP) yield poor visual results in CPA patients.