Genetics: Familial blepharophimosis with ovarian dysfunction

Three cases including two sisters and one brother with blepharophimosis are described. Their father also had blepharophimosis. Moreover, the elder sister initially presented with resistant ovary syndrome and thereafter true premature menopause, while the younger one presented with resistant ovary syndrome. The explanation for the association of blepharophimosis with primary ovarian dysfunction is unknown, but the possibility of a microdeletion of genetic material containing two geographically associated, but independent genes could not be confirmed or excluded. All families affected by blepharophimosis should be counselled about the high incidence of ovarian dysfunction and female infertility, at least in one form of the syndrome.