ECTOPIA-LENTIS-ET-PUPILLAE-SYNDROME IN 3 GENERATIONS

In nine members from three generations and in a distant relative, at l east three significant characteristics of the ectopia lentis et pupill ae syndrome were established including ectopia lentis, ectopia pupilla e, persistent pupillary membrane, iris transillumination, and poor pup illary dilatation. All patients developed bilateral cataract before th e 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 ex ceptional for the ectopia lentis et pupillae syndrome. Although the sy ndrome is said to be inherited in an autosomal recessive mode, in this family, a mother to son and a mother to daughter transmission were pr esent. Pedigree analysis yielded arguments in favour of an autosomal d ominant inheritance with reduced penetrance. A biochemical correlation was not identified.