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

eye An eye is a sensory organ that allows an organism to perceive visual information. It detects light and converts it into electro-chemical impulses in neurons (neurones). It is part of an organism's visual system. In higher organisms, the ey ...

spine Spine or spinal may refer to: Science Biology * Spinal column, also known as the backbone * Dendritic spine, a small membranous protrusion from a neuron's dendrite * Thorns, spines, and prickles, needle-like structures in plants * Spine (zoology), ...

and other areas:Munns CF, Fahiminiya S, Poudel N, Munteanu, MC, Majewski J, Sillence DO, Metcalf JP, Biggin A, Glorieux F, Fassier F, Rauch F, Hinsdale ME (2015)Homozygosity for frameshift mutations in XYLT2 result in a spondylo-ocular syndrome with bone fragility, cataracts, and hearing defects. Am J Hum Genet 96: 971-978

Genetics

This syndrome is caused by inactivating mutations in the xylosyltransferase (

XYLT2 Xylosyltransferase 2 is an enzyme that in humans is encoded by the ''XYLT2'' gene. Function The protein encoded by this gene is an isoform of xylosyltransferase, which belongs to a family of glycosyltransferases. This enzyme transfers xylose f ...

) 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.Schmidt H, Rudolph G, Hergersberg M, Schneider K, Moradi S, Meitinger T (2001) Retinal detachment and cataract, facial dysmorphism, generalized osteoporosis, immobile spine and platyspondyly in a consanguineous kindred - a possible new syndrome. Clin Genet 59: 99-105

References

External links

{{Medical resources , ICD10 = Q87.5 , ICD9 = , ICDO = , OMIM = 605822 , DiseasesDB = , MedlinePlus = , eMedicineSubj = , eMedicineTopic = , MeSH = , GeneReviewsNBK = , GeneReviewsName = , Orphanet = 85194 Autosomal recessive disorders Eye diseases Vertebral column disorders Syndromes