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首页> 外文期刊>Ophthalmic genetics >Ophthalmic findings in a family with early-onset isolated ectopia lentis and the p.Arg62Cys mutation of the fibrillin-1 gene (FBN1)
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Ophthalmic findings in a family with early-onset isolated ectopia lentis and the p.Arg62Cys mutation of the fibrillin-1 gene (FBN1)

机译：早期发作的分离性角膜外肿和fibrillin-1基因（FBN1）的p.Arg62Cys突变家庭的眼科检查结果

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Purpose: The purpose of this paper is to describe ophthalmic findings in a family with isolated ectopia lentis (EL) caused by a specific FBN1 mutation. Methods: Detailed family histories and clinical data were recorded for six isolated EL patients of 11 family members. The ophthalmological and systematic examinations were performed on patients and unaffected members of the investigated family. The detailed ocular examinations included visual acuity, anterior chamber depth, pupil size, lens location, optometry, central corneal thickness, keratometry, slitlamp examination, fundus examination, axial length, ocular B-ultrasound, gonioscope checking, ultrasound biomicroscopy (UBM) and intraocular pressure (IOP; Goldmann applanation tonometer). Systematic examinations included the measurement of echocardiogram, height, arm span, skull, face, jaw, tooth, breast bone, spinal column, and skin. Genomic DNA was extracted using the phenol-chloroform extraction method for all subjects, and sequencing was carried out on an ABI Prism 3730 Genetic Analyzer. Results: A heterozygous mutation, c.184C>T (p.Arg62Cys) in exon 2 of FBN1 was identified in all affected members but was not found in any unaffected member of the family. Our study presented detailed clinical manifestations, including some novel ophthalmic findings, such as pupillary abnormality, different types of glaucoma, and progressive hyperopia. Conclusions: Ophthalmic findings and the p.Arg62Cys mutation of FBN1 gene were reported in a family with early-onset isolated ectopia lentis.
机译：目的：本文的目的是描述由特定的FBN1突变引起的孤立性近视性扁豆（EL）家庭的眼科检查结果。方法：记录详细的家族史和临床资料，包括11名家庭成员中的6名孤立的EL患者。对患者和被调查家庭的未受影响成员进行了眼科和系统检查。详细的眼科检查包括视力，前房深度，瞳孔大小，晶状体位置，验光，角膜中央厚度，角膜曲率法，裂隙灯检查，眼底检查，眼轴长度，B超检查，角膜镜检查，超声生物显微镜检查（UBM）和眼内检查压力（IOP; Goldmann压平眼压计）。系统检查包括超声心动图，身高，臂展，颅骨，面部，颌骨，牙齿，胸骨，脊柱和皮肤的测量。使用酚-氯仿提取方法提取所有受试者的基因组DNA，并在ABI Prism 3730 Genetic Analyzer上进行测序。结果：在所有受影响的成员中均发现了FBN1外显子2的杂合突变c.184C> T（p.Arg62Cys），但在该家族的任何未受影响成员中均未发现。我们的研究提出了详细的临床表现，包括一些新颖的眼科检查结果，例如瞳孔异常，不同类型的青光眼和进行性远视。结论：在一个患有早发性分离性角膜外突的家庭中报道了眼科检查结果和FBN1基因的p.Arg62Cys突变。

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