FAMILIAL BLEPHAROPHIMOSIS WITH OVARIAN DYSFUNCTION

Three cases including two sisters and one brother with blepharophimosi s are described. Their father also had blepharophimosis. Moreover, the elder sister initially presented with resistant ovary syndrome and th ereafter true premature menopause, while the younger one presented,vit h resistant ovary syndrome. The explanation for the association of ble pharophimosis with primary ovarian dysfunction is unknown, but the pos sibility of a microdeletion of genetic material containing two geograp hically associated, but independent genes could not be confirmed or ex cluded. All families affected by blepharophimosis should be counselled about the high incidence of ovarian dysfunction and female infertilit y, at least in one form of the syndrome.