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.

Diagnosis
Treatment
History
This syndrome was first described by Schmidt et al in consanginous Iraqi family in 2001.

References


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