Abstract
Spondylo-ocular syndrome is a rare genetic disorder. Clinical findings include osteoporosis, eye abnormalities including cataract, keratoconus, glaucoma, etc. and hearing abnormalities. The syndrome was reported in 2015 as genetic defect in XYLT-2 gene. Almost eleven different variants have been reported so far from European Australia, Turkey and Pakistan. Mostly spondylo-ocular syndrome is seen in consanguineous marriages.
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