Microspherophakia With Hernia

Johnson et al. (1971) described a family in which 11 persons in 4 generations had microspherophakia with upward dislocation of the lens, myopia, retinal detachment and inguinal hernias in various combinations. No other stigmata of either the Marfan (154700) or the Weill-Marchesani (277600) syndrome were detected. They suggested that this is a distinct connective tissue disorder. No male-to-male transmission occurred in their family. As an isolated trait, microspherophakia has been thought to be recessive (251750).