Neurology · 1998 · 19 citations · 0 references
Endovascular TechniqueGeneticsSurgeryCongenital Bilateral PtosisClinical GeneticsMendelian DisorderVascular SurgeryEndovascular ManagementMonogenic DisordersBilateral Symmetrical CongenitalOphthalmologyOutcomes ResearchOcular PathologyCarotid Artery SurgeryGenetic DisorderX ChromosomePatient SafetyGlaucomaMedicine
<h3>AIMS</h3> To characterise the inheritance of ptosis in one particular pedigree. <h3>METHODS</h3> The pedigree was analysed clinically and genetically to assess the mode of inheritance and to ascribe a gene locus for the condition. <h3>RESULTS</h3> 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. <h3>CONCLUSION</h3> 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.