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首页> 外文期刊>American journal of medical genetics, Part A >Marfan syndrome caused by a novel FBN1 mutation with associated pigmentary glaucoma
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Marfan syndrome caused by a novel FBN1 mutation with associated pigmentary glaucoma

机译：由新的FBN1突变和相关性色素性青光眼引起的Marfan综合征

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摘要

Mutations in fibrillin-1 (FBN1) cause a wide spectrum of disorders, including Marfan syndrome, which have in common defects in fibrillin-1 microfibrils. Ectopia lentis and myopia are frequently observed ocular manifestations of Marfan syndrome. Glaucoma is also associated with Marfan syndrome, though the form of glaucoma has not been well-characterized. In this report, ocular examination of a patient diagnosed with Marfan syndrome based on family history and aortic dilatation was performed, including measurement of facility of aqueous humor outflow by tonography. The patient did not have ectopia lentis at the age of 42 years. Based on optic nerve appearance, reduced outflow facility, elevated IOP with open angles and clear signs of pigment dispersion, the patient was diagnosed with pigmentary glaucoma. The patient was heterozygous for a novel truncating mutation in FBN1, p.Leu72Ter. Histology of normal human eyes revealed abundant expression of elastic fibers and fibrillin-1 in aqueous humor outflow structures. This is the first report of a patient with Marfan syndrome that is caused by a confirmed FBN1 mutation with associated pigmentary glaucoma. In addition to identifying a novel mutation of FBN1 and broadening the spectrum of associated ocular phenotypes in Marfan syndrome, our findings suggest that pigmentary glaucoma may involve defects in fibrillin-1 microfibrils.
机译：原纤维蛋白1（FBN1）的突变会导致多种疾病，包括马凡氏综合症，这些疾病通常在原纤维蛋白1微纤维中具有缺陷。经常观察到小盲肠和近视是马凡氏综合征的眼部表现。青光眼也与马凡氏综合征有关，尽管青光眼的形式尚未被很好地表征。在该报告中，根据家族史和主动脉扩张对被诊断为马凡综合征的患者进行了眼科检查，包括通过超声检查测量房水流出的便利性。该患者在42岁时没有小眼外翻。根据视神经外观，减少的流出设施，眼压升高，开角和色素弥散的明显迹象，该患者被诊断为色素性青光眼。该患者因FBN1的新截短突变p.Leu72Ter而杂合。正常人眼的组织学发现房水流出结构中大量表达弹性纤维和原纤维蛋白1。这是马芬综合征患者的首次报道，该患者是由确诊的FBN1突变伴有色素性青光眼引起的。除了鉴定出FBN1的新突变并扩大马凡氏综合征相关的眼表型谱外，我们的发现还表明色素性青光眼可能与原纤维蛋白1微纤维有关。

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