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Related Experiment Videos

Bilateral congenital ocular cysts.

S H Goldberg1, M G Farber, J D Bullock

  • 1Department of Ophthalmology, Penn State University College of Medicine, Hershey.

Ophthalmic Paediatrics and Genetics
|March 1, 1991
PubMed
Summary
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This study details a rare case of bilateral congenital ocular cysts, diagnosed via advanced imaging and pathology. The findings support congenital cystic eye without associated microphthalmia, a novel association with facial clefting and cephalocele.

Area of Science:

  • Ophthalmology
  • Pediatric Radiology
  • Clinical Genetics

Background:

  • Congenital cystic eye and microphthalmos with cysts are rare developmental anomalies.
  • Ocular abnormalities associated with basal encephalocele are not well-documented.

Observation:

  • A case of bilateral congenital ocular cysts is presented in a child with median cleft lip, cleft palate, and basal cephalocele.
  • Diagnostic evaluation included orbital B-scan ultrasonography, CT, and MRI.
  • Pathologic evaluation confirmed congenital cystic eye, with no evidence of microphthalmic eye detected clinically, via imaging, or microscopy.

Findings:

  • The histopathologic findings were consistent with congenital cystic eye.
  • Despite comprehensive evaluation, a microphthalmic eye was not identified in either orbit.

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  • This represents a unique histopathologically documented case of ocular abnormalities associated with basal encephalocele.

    • Implications:

    • This case expands the understanding of congenital cystic eye spectrum and its potential associations.
    • The findings highlight the importance of advanced imaging and detailed histopathology in diagnosing rare ocular anomalies.
    • This report may prompt further research into the genetic and developmental links between ocular malformations, facial clefting, and cephalocele.