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Related Experiment Videos

Ocular and systemic findings associated with optic disc colobomas.

A Tülin Berk1, Aylin Yaman, A Osman Saatçi

  • 1Pediatric Ophthalmology and Strabismus Unit, Department of Ophthalmology, School of Medicine, Dokuz Eylul University, Izmir, Turkey.

Journal of Pediatric Ophthalmology and Strabismus
|October 17, 2003
PubMed
Summary

Optic disc colobomas present with diverse ocular and systemic anomalies. Poor vision in these patients is often linked to macular involvement and microphthalmia, highlighting the need for comprehensive evaluation.

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Area of Science:

  • Ophthalmology
  • Medical Genetics

Background:

  • Optic disc colobomas are congenital malformations of the optic nerve head.
  • These anomalies can range from isolated optic disc defects to extensive chorioretinal colobomas.

Purpose of the Study:

  • To investigate the spectrum of ocular and systemic abnormalities associated with optic disc colobomas.
  • To correlate clinical findings with visual outcomes.

Main Methods:

  • Retrospective review of patient records diagnosed with optic disc coloboma or chorioretinal coloboma involving the optic disc.
  • Analysis of ocular and systemic findings in affected individuals.

Main Results:

  • Fifteen patients were analyzed, revealing varied presentations including isolated disc colobomas, optic disc and choroid involvement, and optic nerve anomalies.

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  • Associated ocular findings included microphthalmia, microcornea, strabismus, and lens opacities.
  • Systemic anomalies were identified in 40% of patients.

    • Conclusions:

    • Optic disc colobomas exhibit a wide range of clinical manifestations.
    • Reduced visual acuity is frequently associated with macular involvement and microphthalmia in eyes with optic disc colobomas.