T F McMullan1, A G Tyers. 1. Department of Ophthalmology, Salisbury District Hospital, Salisbury, Wiltshire, SP2 8BJ, UK. TFWMCM@aol.com
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.
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.
Authors: B Cormand; K Avela; H Pihko; P Santavuori; B Talim; H Topaloglu; A de la Chapelle; A E Lehesjoki Journal: Am J Hum Genet Date: 1999-01 Impact factor: 11.025