PP48 : Apert syndrome (Acroceplalosyndactyly): Can we save the vision?

Dr.Aditi Dubey

Aim: To report two cases of apert syndrome presenting with different set of ocular manifeststion.

Cases: Apert syndrome is characterized by craniosynostosis, mid facial hypoplasia and complex syndactyly. We present two cases of Apert syndrome, of different age (8 months & 5 years), the younger child fixes and follows light where as the elder one was not. Both the cases presented with proptosis, hypertelorism and antimongoloid slant, while vision threatening complications like corneal opacity, strabismus and optic atrophy were present only in the elder child. Secondarily papilloedema and exposure keratopathy may develop leading to optic atrophy and corneal opacity, if not addressed timely thus compromising vision.

Conclusion: Thus emphasizing the importance of early surgical intervention in preserving visual function. A multidisciplinary approach, including neurosurgeons, plastic surgeons, ophthalmologists, dentists and geneticists, is essential for a successful planning and treatment.