May 2004
Volume 45, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2004
Novel description of autosomal dominant early onset aponeurotic ptosis and corneal limbal vascularization in a three generation family
Author Affiliations & Notes
  • A.J. Lotery
    Ophthalmology – Eye Unit, University of Southampton, Southampton, United Kingdom
  • C.A. Cates
    Ophthalmology – Eye Unit, University of Southampton, Southampton, United Kingdom
  • R.M. Manners
    Ophthalmology – Eye Unit, University of Southampton, Southampton, United Kingdom
  • S.V. Goverdhan
    Ophthalmology – Eye Unit, University of Southampton, Southampton, United Kingdom
  • K. Avery
    Ophthalmology – Eye Unit, University of Southampton, Southampton, United Kingdom
  • R.F. Mullins
    Ophthalmology, University of Iowa, Iowa City, IA
  • Footnotes
    Commercial Relationships  A.J. Lotery, None; C.A. Cates, None; R.M. Manners, None; S.V. Goverdhan, None; K. Avery, None; R.F. Mullins, None.
  • Footnotes
    Support  Research Management Committee, Southampton
Investigative Ophthalmology & Visual Science May 2004, Vol.45, 1529. doi:
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      A.J. Lotery, C.A. Cates, R.M. Manners, S.V. Goverdhan, K. Avery, R.F. Mullins; Novel description of autosomal dominant early onset aponeurotic ptosis and corneal limbal vascularization in a three generation family . Invest. Ophthalmol. Vis. Sci. 2004;45(13):1529.

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

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Abstract

Abstract: : Purpose: To describe a novel phenotype of early onset aponeurotic ptosis and corneal limbal vascularization segregating in a three generation family. Methods: A three generation family with aponeurotic ptosis and corneal limbal vascularization was examined. Karyotype analysis was performed on the proband and DNA was collected from all participating family members. Levator palpebrae muscle biopsies were taken from two family members undergoing ptosis surgery and also from two unrelated control subjects at the time of their ptosis surgery. Results: Ptosis and corneal vascularization was found in five affected individuals in three generations. There was male to male transmission. Karyotype analysis was normal in the proband. Conclusions: A novel phenotype of limbal corneal vascularization and aponeurotic ptosis segregating as an autosomal dominant trait is described. There is no evidence of a contiguous gene deletion syndrome. We hypothesise that abnormal tissue metalloproteinase activity may explain both the presence of ptosis and corneal limbal vascularization in this family. The distribution of extracellular matrix proteins and the vascular density of biopsy samples from family members and control samples is under investigation.

Keywords: cornea: epithelium • genetics • neovascularization 
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