title: Ophthalmic findings in a family with early-onset isolated ectopia lentis and the p.Arg62Cys mutation of the fibrillin-1 gene (FBN1).
abstract: OBJECTIVE
  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.
authors.affiliation: Department of Human Anatomy, Histology and Embryology, College of Medicine, Xi'an Jiaotong University, Xi'an, Shaanxi, China.
authors.forename: Jun-Hong
authors.initials: JH
authors.lastname: Zhao
authors.forename: Tian-Bo
authors.initials: TB
authors.lastname: Jin
authors.forename: Qing-Bo
authors.initials: QB
authors.lastname: Liu
authors.forename: Chao
authors.initials: C
authors.lastname: Chen
authors.forename: Hai-Tao
authors.initials: HT
authors.lastname: Hu
mesh_terms: D000328:Adult; D001120:Arginine / Q000235:genetics; D003545:Cysteine / Q000235:genetics; D004252:DNA Mutational Analysis; D004479:Ectopia Lentis / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D005091:Exons / Q000235:genetics; D005260:Female; D000071838:Fibrillin-1; D000071837:Fibrillins; D005902:Glaucoma, Open-Angle / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D006068:Gonioscopy; D006801:Humans; D007429:Intraocular Pressure; D008297:Male; D008840:Microfilament Proteins / Q000235:genetics*; D033401:Microscopy, Acoustic; D008875:Middle Aged; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011681:Pupil Disorders; D014065:Tonometry, Ocular; D054392:Adipokines
chemical_list: D001120:Arginine; D003545:Cysteine; D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; C000605722:FBN1 protein, human; D054392:Adipokines