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.
1例10岁自幼双眼无法睁大男性患者，就诊于上海交通大学医学院附属第九人民医院眼科。根据并指（趾）畸形，面中部发育不良，眼球突出和眼距大等颅面部畸形以及基因检测结果FGFR2基因杂合错义突变c.758C>G（p.P253R），诊断为Apert综合征。提示需要及时发现和治疗Apert综合征患者眼球突出、上睑下垂、斜视、弱视、视神经萎缩等眼部相关异常，避免出现不可逆性视力损伤。.