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Ruifang Sui, Fangtian Dong, Xuan Zou; Transthyretin Ala36pro Mutation In A Chinese Pedigree Of Familial Transthyretin Amyloidosis With Early Ocular Involvement. Invest. Ophthalmol. Vis. Sci. 2012;53(14):1565.
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A Chinese family with familial transthyretin (TTR) amyloidosis (FTA) was identified. The purpose of this study was to assess the ocular features and to identify the genetic defects in this family.
The family histories were collected and the index patients underwent regular ophthalmologic examinations. Venous blood was collected from family members and genomic DNA was extracted. All exons and exon-intron boundaries of the TTR gene were sequenced for gene mutation in this family.
The pedigree of interest was a three-generation family with 11 members. Eight affected individuals were confirmed in this family. Sequencing of the TTR gene identified a previously-described pathogenic transversion of guanine to cytosine at base pair 106 in exon 2 (c.G106C), which substitutes a proline for alanine at codon 36 of the TTR protein (p.Ala36Pro). The primary ocular signs were vitreous opacities, beginning from the third or fourth decade, accompanied with retinal vasculitis, hemorrhages, and widespread pinpoint deposits in the peripheral retina. Dense vitreous opacities presented at the late stage. Symptoms of polyneuropathy and autonomic neuropathy might be the late features of FTA with Ala36Pro mutation.
A Chinese family with TTR Ala36Pro-associated FTA is characterized by early ocular involvement. Widespread pinpoint amyloidal deposition may be the early manifestation prior to vitreous opacities.
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