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Ocular Manifestations of Familial Amyloidosis Transthyretin V30M Related: Impact of Liver Transplantation

SCIENTIFIC POSTER_Ines Casal_2 Familial amyloidosis TTR V30M is caused by an amino acid substitution of methionine for valine at position 30 of transthyretin (TTR), a transport protein. This leads to an extracellular amyloid deposition in peripheral nerves causing motory, sensory and autonomic neuropathy in solid organs and the eye. The major production of circulating TTR is in the liver, but some production occurs also in the choroid and...

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Familial Amyloidosis TTR V30M: What Happens in the Posterior Segment of the Eye?

SCIENTIFIC POSTER_Ines Casal_1 Familial amyloid polyneuropathy (FAP) is a group of autosomal dominant inherited diseases whose most frequent causative mutation is TTR V30M (a substitution of methionine for valine at position 30 in transthyretin). Transthyretin (TTR) is a normal serum protein which is mainly synthesized in the liver, but also in other tissues such as the choroid plexus and the retinal pigmented epithelium. This disorder is...

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