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 consangineous Iraqi family in 2001.
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