Journal of Clinical and Experimental Ophthalmology
Open Access

James A Eadie

Publications

• Research Article
  Genetic Analysis of a Family with a Novel Type I Fibrillinopathy
  Author(s): James A Eadie, John C Hart Jr and Les I Siegel James A Eadie, John C Hart Jr and Les I Siegel
  
  Background: This study describes a novel polymorphism in the Fibrillin gene (FBN1) and the associated unique Type I Fibrillinopathy phonotypic variant found in a single family. Clinical data were taken at a single academic institution while blood samples were sent for commercially available sequencing. Methods: The proband of the study was referred to the authors with ectopia lentis (EL). A careful family history revealed several other family members with zonular instability detected at the time of cataract surgery. A thorough workup for known causes of EL uncovered a novel polymorphism in the FBN1 gene. A pedigree was devised and, medical records and genetic testing was obtained on eight additional family members. Retrospective analysis of clinical information and family history data were combined with prospective genetic analysis of the avail.. View More»
  DOI: 10.4172/2155-9570.1000261

  Abstract PDF

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