Department of Ophthalmology, Hebei Eye Hospital, Xingtai, Hebei, China.
Medicine (Baltimore). 2021 Mar 12;100(10):e24991. doi: 10.1097/MD.0000000000024991.
Crouzon syndrome is an autosomal dominant genetic disorder caused by mutations in fibroblast growth factor receptor 2 (FGFR2) and one of the most common types of craniosynostosis. Here we report the detection of FGFR2 mutation and its related clinical findings in 2 patients with Crouzon syndrome from a Chinese family.
We report a case of a 28-year-old male patient presented with the chief complaint of gradually blurring of his eyes over the last 6 months before visiting our clinics. History revealed low visual acuity in his right eye since childhood. Physical examination showed that both the patient and his mother have the appearance of craniofacial dysostosis, mandibular prognathism, ocular proptosis, short superior lip, scoliosis, and thoracic deformity.
Auxiliary examinations lead to the diagnosis of Crouzon syndrome with binocular optic atrophy, myelinated retina nerve fibers, and ametropia in both eyes, and amblyopia in the right eye of the male patient. The molecular genetic analysis confirmed the diagnosis by detecting a heterozygous pathogenic mutation c.1026C > G (C342W) in exon 10 of FGFR2 in both the patient and his mother, but not in any of the unaffected family members.
None.
Our study confirms the presence of optic nerve atrophy in patients with Crouzon syndrome carrying FGFR2 C342W mutations and indicates that MRI and funduscopy should be performed to examine the optic nerve changes for patients with Crouzon syndrome.
Crouzon 综合征是一种常染色体显性遗传疾病，由成纤维细胞生长因子受体 2（FGFR2）基因突变引起，是最常见的颅缝早闭类型之一。本研究报告了中国一个家系中 2 例 Crouzon 综合征患者 FGFR2 突变及其相关临床发现。
我们报告了 1 例 28 岁男性患者，主要症状为近 6 个月视力逐渐模糊。病史显示自幼右眼视力不佳。体格检查发现，患者及其母亲均有颅面骨发育不全、下颌前突、眼球突出、上唇短、脊柱侧凸和胸廓畸形。
辅助检查诊断为 Crouzon 综合征，双眼视神经萎缩，视网膜神经纤维髓鞘化，双眼屈光不正，右眼弱视。该男性患者 FGFR2 第 10 外显子存在杂合致病性突变 c.1026C＞G（C342W），其母亲也携带该突变，但未在其他未受影响的家庭成员中检测到。
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本研究证实携带 FGFR2 C342W 突变的 Crouzon 综合征患者存在视神经萎缩，并提示对于 Crouzon 综合征患者应行 MRI 和眼底检查以评估视神经变化。
