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

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.

Figure 1

Ptosis pedigree. + = Denotes sample taken for analysis. NND = neonatal death.

Figure 2

(A) Male member of the pedigree showing bilateral symmetrical congenital ptosis. (B) Female member of the pedigree showing bilateral symmetrical congenital ptosis.