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Eye involvement has been considered a principal component feature in Stickler syndrome. However, families lacking eye involvement have been reported. We describe such a family and show that their phenotype is due to a heterozygous 27 basepair deletion in the gene COL11A2, which encodes the α 2 (XI) chain of type XI collagen. This is the second family in whom a COL11A2 mutation has been found...