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

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 congeni tal 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 o phthalmic condition was thereby characterised-namely, X linked dominant con genital isolated bilateral ptosis.