Total Globe Subluxation Secondary to Pfeiffer Syndrome Type II
A neonate born at 37 weeks via complicated vaginal delivery was transferred to Jackson Memorial Hospital on day five of life for evaluation of severe right eye proptosis. Prenatal care was limited, and no anatomy scan had been performed. Systemic examination revealed multiple congenital abnormalities, and ophthalmic assessment demonstrated complete globe subluxation of the right eye, proptosis of the left eye, evidence of severe exposure keratoconjunctivitis in both eyes, and markedly elevated intraocular pressure bilaterally. Neuroimaging showed craniosynostosis with fusion of the medial portions of the lambdoid sutures, and genetic testing confirmed an FGFR2 mutation consistent with Pfeiffer syndrome. Management focused on ocular surface protection and amblyopia prevention using intensive lubrication with moisture chambers, topical and systemic corticosteroids, and bedside temporary followed by permanent tarsorrhaphy as a temporizing measure to bridge to eventual surgical repair. Multidisciplinary consultation with neurosurgery, otolaryngology, neonatal ICU, oculoplastic surgery, cornea, glaucoma, and pediatric ophthalmology guided systemic evaluation and coordinated management. Pfeiffer syndrome type II, a rare form of syndromic craniosynostosis, is characterized by premature fusion of multiple cranial sutures and significant craniofacial malformations that can result in extreme proptosis or globe subluxation and amblyopia. This case highlights the critical importance of early recognition and coordinated care to prevent irreversible ocular damage. Understanding genotype–phenotype correlations in syndromic craniosynostosis aids in accurate diagnosis, prognostication, and timely intervention. Prompt protective management is essential to preserve visual potential and minimize exposure-related morbidity in neonates presenting with severe orbital deformities.
Presentation Date: 10/30/2025
Issue Date: 12/05/2025
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