Article Text

Download PDFPDF

X linked dominant congenital isolated bilateral ptosis: the definition and characterisation of a new condition
Free
  1. T F W McMullan and
  2. A G Tyers
  1. Department of Ophthalmology, Salisbury District Hospital, Salisbury, Wiltshire, SP2 8BJ, UK
  1. T F W McMullan or A G TyersTFWMCM{at}aol.com

Abstract

AIMS To characterise the inheritance of ptosis in one particular pedigree.

METHODS The pedigree was analysed clinically and genetically to assess the mode of inheritance and to ascribe a gene locus for the condition.

RESULTS Affected members of the pedigree have bilateral symmetrical congenital isolated ptosis, a condition which is linked to genetic markers on the X chromosome in this family.

CONCLUSION A pedigree with dominantly inherited congenital bilateral ptosis is presented. The pedigree exhibits X linked dominant inheritance. A new ophthalmic condition was thereby characterised—namely, X linked dominant congenital isolated bilateral ptosis.

  • congenital ptosis
  • X linked dominant

Statistics from Altmetric.com

Notes

    Request Permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.