[Ocular manifestations of Apert syndrome: a case report]

A 10-year-old boy with bilaterally reduced palpebral fissure opening since early childhood presented to the Department of Ophthalmology, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine. The diagnosis of Apert syndrome was based on syndactyly of the fingers and toes, midfacial hypoplasia, proptosis, hypertelorism, and other craniofacial dysmorphic features, and was further supported by molecular genetic testing identifying a heterozygous missense variant in FGFR2, c.758C>G(p.P253R). This case underscores the importance of early recognition and timely intervention for ophthalmic manifestations in Apert syndrome-including proptosis, ptosis, strabismus, amblyopia, and optic neuropathy/atrophy-to avert irreversible visual impairment.