EPOS

European Paediatric Ophthalmological Society

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Complex bilateral ocular and eyelid malformation

Wabbels Bettina, Lorenz Birgit
¹University of Regensburg, Dep. of Paediatric Ophthalmology, Strabismology and Ophthalmogenetics

Case report: A now three month old girl was born with a bilateral complex ocular malformation: upper lid coloboma with central epibulbar dermoid-like structures adherent to the upper cornea and sclera but with relatively normal central upper lid margins with cilia. Epibulbar dermoids are present surrounding the cornea, the cornea itself is opacified and vascula-rised . The lower lids are normal, lid closure is possible nearly complete. Intraocular struc-tures with high echographic intensity are present. The child has light perception. She is otherwise healthy, no abnormalities were noted during pregnancy. There is no family history of eye malformations. Discussion: This malformation does not look like any known syndrome. Differential diagnosis includes ablepharon-macrostomia syndrome with absent eyelids (this syndrome includes missing hair, brows and lashes as well as macrostomia and other abnormalities) or Barber-Say syndrome (usually with hirsutism and macrostomia). In the present case abnormal ectoderm development is plausible. A possible explication of this malformation could be the inhibition of upper lid closure by epibulbar dermoids during embryogenesis, but the intact central upper lid margins cannot be accounted for by this hypothesis.