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

摘要

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.