한 가족에 발생한 선천성 검열축소증

Abstract

Congenital blepharophimosis is a rare, but well documented autosomal dominant disorder which is associated with ptosis, epicantus inversus and telecanthus in many cases. In addition, abnormalities of levator palpebrae superioris, facial bone, lacrimal system and movement of extraocular muscle are occasionally encountered. We have experienced a family with blepharophimosis which is composed of 4 people. Among them, the father, the son and the daughter are affected with blepharophimosis, ptosis, epicantus inversus, telecantus, limitation of EOM action, esotropia and amblyopia. We operated on the eyes of the daughter for blepharophimosis and blepharoptosis and the result was good. We report these cases with the review of literature.