LRP2 and Stickler syndrome type 1: A further consanguineous family with two children diagnosed with Stickler syndrome, with congenital high myopia, hypoplastic vitreous, a possible vitreous membranous anomaly similar to type 1 Stickler syndrome, giant retinal tear detachment and joint hypermobility, were found to have a homozygous change in LRP2. LRP2 encodes lipoprotein receptor-related protein-2, an endocytic transmembrane receptor.