Spondylo-ocular syndrome
Spondylo-ocular syndrome is a rare genetic disorder characterised by lesions in the eye and the spine. Presentation. These can be divided into those affecting the eyes, spine and other areas: Genetics. This syndrome is caused by inactivating mutations in the xylosyltransferase (XYLT2) gene. It is inherited in an autosomal recessive manner. History. This syndrome was first described by Schmidt "et al" in consanginous Iraqi family in 2001.