April 2011
Volume 52, Issue 14
Free
ARVO Annual Meeting Abstract  |   April 2011
Genotype-phenotype Correlation In Fibrillin-1 And ADAMTSL4 Ectopia Lentis
Author Affiliations & Notes
  • Aman Chandra
    Vitreoretinal, Moorfields Eye Hospital, London, United Kingdom
  • Kathryn Hughes
    Cardiac and Vascular Sciences, St George's, University of London, London, United Kingdom, London, United Kingdom
  • Gavin Arno
    Cardiac and Vascular Sciences, St George's, University of London, London, United Kingdom, London, United Kingdom
  • Jan Poloniecki
    Cardiac and Vascular Sciences, St George's, University of London, London, United Kingdom, London, United Kingdom
  • David Charteris
    Vitreoretinal, Moorfields Eye Hospital, London, United Kingdom
  • Anne Child
    Cardiac and Vascular Sciences, St George's, University of London, London, United Kingdom, London, United Kingdom
  • Footnotes
    Commercial Relationships  Aman Chandra, None; Kathryn Hughes, None; Gavin Arno, None; Jan Poloniecki, None; David Charteris, None; Anne Child, None
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science April 2011, Vol.52, 2766. doi:
  • Views
  • Share
  • Tools
    • Alerts
      ×
      This feature is available to authenticated users only.
      Sign In or Create an Account ×
    • Get Citation

      Aman Chandra, Kathryn Hughes, Gavin Arno, Jan Poloniecki, David Charteris, Anne Child; Genotype-phenotype Correlation In Fibrillin-1 And ADAMTSL4 Ectopia Lentis. Invest. Ophthalmol. Vis. Sci. 2011;52(14):2766.

      Download citation file:


      © ARVO (1962-2015); The Authors (2016-present)

      ×
  • Supplements
Abstract

Purpose: : To determine if the inheritance pattern, and ocular presentation can differentiate two major genetic subgroups of ectopia lentis (EL).

Methods: : Of 33 non Marfan syndrome EL patients studied, 21 had FBN1 mutations with no cardiac involvement (Ghent negative); 6 had causative ADAMTSL4 mutations; 6 had neither. Clinical notes were reviewed.

Results: : Of the 21 FBN1-mutation patients 19 had bilateral lens dislocation compared to four patients in the ADAMTSL4 group. Lens movement was in no specific direction in either group. Fifteen (71%) of the FBN1 had dominant family history, whilst seven (37%) demonstrated marfanoid build. No FBN1 mutation patients had cataracts compared to three out of six ADAMTSL4 patients. Three out of the six ADAMTSL4 group had an affected sibling, and two had first cousin parents: suggesting recessive inheritance.Of the remaining six patients where no mutations have been found, four out of six demonstrated dominant inheritance, and two had a possible recessive inheritance, suggesting at least two further genes (1 dominant, 1 recessive) causing EL.

Conclusions: : Two major EL subgroups can be distinguished clinically by trends in inheritance pattern, body habitus, bilaterality of disease and incidence of cataract. Further work is required to increase the cohort size and thus identify other genes predicted to cause EL, their possible interactions, and further clarify genotype- phenotype relationships.

Keywords: gene screening • genetics 
×
×

This PDF is available to Subscribers Only

Sign in or purchase a subscription to access this content. ×

You must be signed into an individual account to use this feature.

×