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Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare genetic condition: about a hundred articles have been published, part of them referring to pedigrees with several affected members, the others describing sporadic cases. Prevalence, although not evaluated accurately, is probably less than 1:5,000. BPES is characterized by blepharophimosis (general reduction of palpebral aperture), ptosis, telecanthus (increased distance between inner canthi), epicanthus inversus (a skin fold arising in the lower eyelid and extending upwards, partially covering the inner canthus). Two subtypes of BPES are observed. In type 1, palpebral anomalies are associated with female infertility due to ovarian failure and premature menopause. In type 2, only palpebral anomalies are observed. In both cases transmission is autosomal dominant and the gene was mapped to 3q23. Mutations in the gene FOXL2 were identified in both types of BPES. About 50% of cases are due to de novo mutations. |