Spondyloocular syndrome

Spondyloocular syndrome (SOS) is a rare autosomal recessive disorder due to mutations in the XYLT2 gene. XYLT2 encodes one of the xylosyltransferases involved in proteoglycan biosynthesis. The affected individuals were found to produce lower amount of chondroitin and heparan sulfate. Clinically, the major features include crystalline lens malformation, cataract, retinal detachment that result in loss of vision, facial dysmorphism, generalized osteoporosis, and immobile spine and platyspondyly.