rss
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.

Notes

    This Article

    1. Abstract
    2. Full text
    3. PDF

    Responses

    1. Submit a response
    2. No responses published

    Register for free content


    Free trial
    Individuals may register for a free 60 day online trial to all content.

    Free archive
    The full back archive is now available for all BMJ Journals. Institutional subscribers may access the entire archive as part of their subscription. Personal subscribers will also have access to all content when logged in. Non-subscribers who register have free access to all articles published before 2006 right back to volume 1 issue 1. Register here to access the free archive of all BMJ Journals.

    Don't forget to sign up for content alerts so you keep up to date with all the articles as they are published.