Genetics: Familial blepharophimosis with ovarian dysfunction

Three cases including two sisters and one brother with blepharophimosisare described. Their father also had blepharophimosis. Moreover,the elder sister initially presented with resistant ovary syndromeand thereafter true premature menopause, while the younger onepresented with resistant ovary syndrome. The explanation forthe association of blepharophimosis with primary ovarian dysfunctionis unknown, but the possibility of a microdeletion of geneticmaterial containing two geographically associated, but independentgenes could not be confirmed or excluded. All families affectedby blepharophimosis should be counselled about the high incidenceof ovarian dysfunction and female infertility, at least in oneform of the syndrome.