The British journal of ophthalmology
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Review Case Reports
Ectopia lentis et pupillae syndrome in three generations.
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. ⋯ Pedigree analysis yielded arguments in favour of an autosomal dominant inheritance with reduced penetrance. A biochemical correlation was not identified.