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aniridia/tyrosine

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ArticoliTest cliniciBrevetti
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Soluble vascular endothelial growth factor receptor-1 contributes to the corneal antiangiogenic barrier.

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OBJECTIVE Pathological neovascularisation within the normally avascular cornea is a serious event that can interfere with normal vision. Upregulation of vascular endothelial growth factor (VEGF) has been associated with neovascularisation in the eye, suggesting that maintaining low levels of VEGF is
PAX6 is a candidate gene for familial aniridia. We have carried out a mutational analysis of the PAX6 gene in a three-generation family from Germany, containing 5 individuals affected with ocular abnormalities. In all affected individuals, a heterozygous mutation was detected in the PAX6 gene,

Retinal vascular and optic nerve abnormalities in albinism.

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Albinism is a condition in which the pigment melanin may not be synthesized from tyrosine. The fundus photographs of 24 eyes of 12 patients with the clinical diagnosis of either ocular or oculocutaneous albinism were reviewed. We observed two findings that to our knowledge have not been reported
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