Ophthalmic manifestations of Apert syndrome can impact normal development of vision in various ways. Threats to normal vision include oblique astigmatism, amblyopia, strabismus, exposure keratopathy, papilledema, and hypoxic damage from obstructive sleep apnea. Many patients with Apert syndrome require glasses, yet special glasses need to be found, or uniquely created, to rest comfortably on the face of the child. Amblyopia, if present, requires aggressive management with patching or atropine penalization of the better-sighted eye, and glasses as indicated. Strabismus, typically V-pattern strabismus, is nearly always present and commonly addressed with surgical repair. Exposure keratopathy can occur due to exorbitism, and requires medical intervention or surgical repair. Surveillance for ophthalmic manifestations of initial or recurrent elevation in intracranial pressure is critical, even after primary cranial vault expansion. Fundus examination and photography, optical coherence tomography (OCT), and sometimes visual evoked potential (VEP) screening for papilledema, or optic atrophy, assist with surveillance. Finally, obstructive sleep apnea may exacerbate optic neuropathy and should be addressed in early childhood. Scheduled periodic ophthalmic evaluation based on the patient’s ophthalmic findings and for surveillance for ophthalmic manifestations of elevated intracranial pressure may critically alter the prognosis for good vision and normal central nervous system development.

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Ophthalmic Evaluation

  • Linda R. Dagi,
  • Yoon-Hee Chang,
  • Matthieu Robert,
  • Romain Touzé,
  • Isabella de Oliveira Lima Parizotto Paula,
  • Raul Gonçalves de Paula

摘要

Ophthalmic manifestations of Apert syndrome can impact normal development of vision in various ways. Threats to normal vision include oblique astigmatism, amblyopia, strabismus, exposure keratopathy, papilledema, and hypoxic damage from obstructive sleep apnea. Many patients with Apert syndrome require glasses, yet special glasses need to be found, or uniquely created, to rest comfortably on the face of the child. Amblyopia, if present, requires aggressive management with patching or atropine penalization of the better-sighted eye, and glasses as indicated. Strabismus, typically V-pattern strabismus, is nearly always present and commonly addressed with surgical repair. Exposure keratopathy can occur due to exorbitism, and requires medical intervention or surgical repair. Surveillance for ophthalmic manifestations of initial or recurrent elevation in intracranial pressure is critical, even after primary cranial vault expansion. Fundus examination and photography, optical coherence tomography (OCT), and sometimes visual evoked potential (VEP) screening for papilledema, or optic atrophy, assist with surveillance. Finally, obstructive sleep apnea may exacerbate optic neuropathy and should be addressed in early childhood. Scheduled periodic ophthalmic evaluation based on the patient’s ophthalmic findings and for surveillance for ophthalmic manifestations of elevated intracranial pressure may critically alter the prognosis for good vision and normal central nervous system development.