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. 2001 Jan;85(1):70-3.
doi: 10.1136/bjo.85.1.70.

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

T F McMullan  1 , A G Tyers
Affiliations

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

T F McMullan et al. Br J Ophthalmol. 2001 Jan.

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.

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Figures

Figure 1
Figure 1
Ptosis pedigree. + = Denotes sample taken for analysis. NND = neonatal death.
Figure 2
Figure 2
(A) Male member of the pedigree showing bilateral symmetrical congenital ptosis. (B) Female member of the pedigree showing bilateral symmetrical congenital ptosis.
See this image and copyright information in PMC

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