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


CONCLUSIONS
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.
McMullan
T F
TF
Department of Ophthalmology, Salisbury District Hospital, Salisbury, Wiltshire, SP2 8BJ, UK. TFWMCM@aol.com
Tyers
A G
AG
D001763:Blepharoptosis / Q000151:congenital / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D010375:Pedigree; D010641:Phenotype; D014960:X Chromosome