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Br J Ophthalmol 2001;85:70-73 doi:10.1136/bjo.85.1.70
  • Original Article
    • Clinical science

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}aol.com
  • Accepted 28 June 2000

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.

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