Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES syndrome)

Although von Ammon' first used the term blepharphimosis in 1841, it was Vignes2 in 1889 who first associated blepharophimosis with ptosis and epicanthus inversus. In 1921, Dimitry3 reported a family in which there were 21 affected subjects in five generations. He described them as having ptosis alone and did not specify any other features, although photographs in the report show that they probably had the full syndrome. Dimitry's pedigree was updated by Owens et a/ in 1960. The syndrome appeared in both sexes and was transmitted as a Mendelian dominant. In 1935, Usher5 reviewed the reported cases. By then, 26 pedigrees had been published with a total of 175 affected persons with transmission mainly through affected males. There was no consanguinity in any pedigree. In three pedigrees, parents who obviously carried the gene were unaffected. Well over 150 families have now been reported and there is no doubt about the autosomal dominant pattern of inheritance. However, like Usher,5 several authors have noted that transmission is mainly through affected males and less commonly through affected females.4 6 Reports by Moraine et al7 and Townes and Muechler8 have described families where all affected females were either infertile with primary or secondary amenorrhoea or had menstrual irregularity. Zlotogora et a/9 described one family and analysed 38 families reported previously. They proposed the existence of two types: type I, the more common type, in which the syndrome is transmitted by males only and affected females are infertile, and type II, which is transmitted by both affected females and males. There is male to male transmission in both types and both are inherited as an autosomal dominant trait. They found complete penetrance in type I and slightly reduced penetrance in type II.