Ectopia lentis et pupillae syndrome in three generations

Abstract

In nine members from three generations and in a distant relative, at least three significant characteristics of the ectopia lentis et pupillae syndrome were established including ectopia lentis, ectopia pupillae, persistent pupillary membrane, iris transillumination, and poor pupillary dilatation. All patients developed bilateral cataract before the age of 40 years, and two patients presented with intermittent acute intraocular hypertensive crises. Not only the high number of patients in one family, but also the occurrence in three generations is very exceptional for the ectopia lentis et pupillae syndrome. Although the syndrome is said to be inherited in an autosomal recessive mode, in this family, a mother to son and a mother to daughter transmission were present. Pedigree analysis yielded arguments in favour of an autosomal dominant inheritance with reduced penetrance. A biochemical correlation was not identified.