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

Abstract

To characterise the inheritance of ptosis in one particular pedigree. The pedigree was analysed clinically and genetically to assess the mode of inheritance and to ascribe a gene locus for the condition. 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. 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.