Microspherophakia, upward subluxation of the lens, myopia, retinal detachment, and inguinal hernias in various combinations were found in 11 individuals and three generations of one family. The mode of inheritance is compatible with a variable expressive dominant trait. There were no other stigmata of Marfan's or Marchesani's syndromes. The basic defect is postulated to be in mesodermal development, resulting in abnormal ciliary and globe development responsible for the myopia and microspherophakia and a mild connective tissue defect to account for the increased incidence of inguinal hernias.
Johnson VP, Grayson M, Christian JC. Dominant Microspherophakia. Arch Ophthalmol. 1971;85(5):534–542. doi:10.1001/archopht.1971.00990050536003
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