Confirmation of the autosomal recessive syndrome of ectopia lentis and distinctive craniofacial appearance

We report four members of a Lebanese Druze family with the syndrome of lens dislocation, spontaneous filtering blebs, anterior segment abnormalities, and a distinctive facial appearance. The constellation of clinical abnormal ities in these patients is not suggestive of the Marfan syndrome or other c onnective tissue disorders associated with ectopia lentis, We previously de scribed this syndrome in another presumably unrelated and highly inbred Dru ze family from the mountains of Lebanon, We postulated autosomal recessive inheritance in a pseudo-dominant pedigree, A few isolated reports of simila r cases are scattered in the world literature. We now confirm that this is a distinct autosomal recessive syndrome whose gene mutation is enriched in the Lebanese Druze community. (C) 2001 Wiley-Liss,Inc.