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X linked dominant congenital isolated bilateral ptosis: the definition and characterisation of a new condition
  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}


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

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