X linked dominant congenital isolated bilateral ptosis: the definition and characterisation of a new condition. Issue 1 (1st January 2001)

• Record Type: Journal Article
• Authors: McMullan, T F W; Tyers, A G
• Is Part Of: British journal of ophthalmology. Volume 85:Issue 1(2001)
• Page Start: 70
• Page End: 73
• Publication Date: 2001-01-01
• Subjects: congenital ptosis -- X linked dominant; Ophthalmology -- Periodicals; 617.7
• DOI: 10.1136/bjo.85.1.70
• Languages: English
• ISSNs: 0007-1161

Abstract

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.