Journal of Clinical and Experimental Ophthalmology
Open Access
ISSN: 2155-9570
ISSN: 2155-9570
John C Hart Jr
Tanzania
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