Ehlers Danlos Syndrome

The Ehlers-Danlos syndromes are a heterogeneous group of inherited connective tissue disorders that are characterized by joint hypermobility and skin fragility and hyperextensibility. Patients with the autosomal recessive type VI variant of the Ehlers-Danlos syndromes (EDS VI), also classified as the kyphoscoliotic type, are clinically characterized by neonatal kyphoscoliosis, generalized joint laxity,skin fragility, and severe muscle hypotonia at birth. EDS VI results from mutations in the lysyl hydroxylase 1 gene (PLODi) causing a deficiency of lysyl hydroxylase. This enzyme hy-droxylates specific lysine residues in the collagen molecule to form hydroxylysines, important in collagen cross-linking, which gives collagen its tensile strength. Ocular involvement in EDS VI includes myopia, thin sclera, microcornea and rheg-matogenous retinal detachment. Retinal detachment repair may be complicated by susceptibility to suprachoroidal haemorrhage because of vascular fragility.

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