Br J Ophthalmol 2001;85:70-73
( January )
X linked dominant congenital isolated bilateral ptosis: the
definition and characterisation of a new condition
T F W McMullan, A G Tyers
Department of
Ophthalmology, Salisbury District Hospital, Salisbury, Wiltshire,
SP2 8BJ, UK
Correspondence to: T F W McMullan or A G Tyers
TFWMCM{at}aol.com
Accepted for publication 28 June 2000
AIMS
To characterise
the inheritance of ptosis in one particular pedigree.
METHODSThe pedigree
was analysed clinically and genetically to assess the mode of
inheritance and to ascribe a gene locus for the condition.
RESULTSAffected
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.
CONCLUSIONA pedigree
with dominantly inherited congenital bilateral ptosis is presented. The
pedigree exhibits X linked dominant inheritance. A new ophthalmic
condition was thereby characterisednamely, X linked dominant
congenital isolated bilateral ptosis.
© 2001 by British Journal of Ophthalmology
