EPOS

European Paediatric Ophthalmological Society

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COLOBOMA: CLINICAL CASES

Rodrigues Jo, Vaz Fernando, Teixeira Susana, Silva Filomena, Esperancinha F. E.
¹Hospital Fernando Fonseca (Portugal)

Introduction: Ocular colobomas are relatively common congenital clinical situation resulting from the failure or incomplete fusion of the embryonic fissure of the optic cup. It can be present in anywhere along the line extending from optic disc to inferonasal border of pupllary margin. Most of coloboma cases is associated with esporadic incidence, but in some cases it's possible to observe autosomal dominant inheritance. Clinically, coloboma can occur as an isolated finding in an otherwise healthy person or manifest as discrete to severe decreased visual acuity or visual field defects, uni or bilateral, and can be associated with different ocular alterations (microphthalmia; strabismus; retinal detachment), chromosomic anomalies (ex. trisomia 13) or other systemic malformations (ex. Goldenhar syndrome). Purpose: The authors presents their clinical experience in three cases of coloboma: Case #1, bilateral coloboma associated with microphthalmia; case #2, bilateral coloboma associated with strabismus; case #3, unilateral coloboma associated with multiple malformations (syndrome CHARGE). Conclusion: Ocular colobomas are relatively common congenital ophthalmic malformations, with variable genetic pattern of inheritance, that occurs isolated or associated to ophthalmic/systemic alterations with significance in visual outcome.