背景:努南综合征(NS)是一种相当常见的遗传疾病,表型高度可变。其特征包括遗传性心脏缺陷,特征性的面部特征,身材矮小,和轻微的运动技能迟钝。病例介绍:一名患有NS的16岁白人女孩报告视力下降,畏光,右眼疼痛(RE)。RE的初始最佳矫正视力(BCVA)为0.3。检查显示结膜和睫状体充血,角质沉淀物,并在前房爆发。此外,出血后的漂浮物,曲折的船只,RE中存在视网膜前膜。诊断为单侧前葡萄膜炎,在使用局部类固醇和睫状肌麻痹滴剂后,这种情况得到了解决。由于RE中存在视网膜毛细血管扩张和眼外渗出物(与Coats病(CD)2A期一致),进行激光治疗。患者仍在持续随访中,一年后,RE中的BCVA为0.7。结论:在这里,我们报告了临床特征,遗传发现,和患有NS的患者的视网膜成像结果。据我们所知,这是,到目前为止,关于NS与PTPN11突变与前葡萄膜炎和CD的相关性的第一份报告。
Background: Noonan syndrome (NS) represents a fairly common genetic disorder with a highly variable phenotype. Its features include inherited heart defects, characteristic facial features, short stature, and mild retardation of motor skills.
Case presentation: A 16-year-old Caucasian girl with NS reported visual deterioration, photophobia, and pain in the right eye (RE). The initial best-corrected visual acuity (BCVA) was 0.3 in the RE. An examination demonstrated conjunctival and ciliary body hyperemia, keratic precipitates, and flare in the anterior chamber. In addition, post-hemorrhagic floaters, tortuous vessels, and an epiretinal membrane in the RE were present. Diagnosis of unilateral anterior uveitis was made, and this resolved after the use of topical steroids and cycloplegic drops. Due to the presence of retinal telangiectasias and extraocular exudates (consistent with Coats\' disease (CD) stage 2A) in the RE, laser therapy was performed. The patient remains under constant follow-up, and after one year, the BCVA in the RE was 0.7. Conclusions: Here, we report the clinical characteristics, genetic findings, and retinal imaging results of a patient with NS. To our knowledge, this is, to date, the first report of an association of NS with a PTPN11 mutation with anterior uveitis and CD.