Abstract:
OBJECTIVE:To describe the clinical and pathological findings of two large mainland Chinese kindreds with vitreous amyloidosis and associated transthyretin mutation. METHODS:Twenty individuals from two kindreds with vitreous amyloidosis were ascertained. The transtheretin (TTR) gene of each individual was analyzed, and a clinical examination was obtained on the index patient. RESULTS:Vitreous amyloidosis and radiculopathy were the significant findings in affected individuals. Vitrectomy was performed on the severely affected individuals, with resulting postoperative visual acuity of 20/80 to 20/25. Congo red staining demonstrated amyloid in the vitreous specimen. In Case A, DNA sequencing of exon 2 in the TTR gene revealed a base-pair substitution at codon 35, AAG > ACG (Lys35Thr). In Case B, a missense mutation of leucine-to-arginine substitution was identified at amino acid position 55 in exon 3, CTG > CGG (Leu55Arg). CONCLUSIONS:TTR Lys35Thr and Leu55Arg mutations are associated with vitreous amyloidosis. The phenotype is variable, with vitreous opacities occurring earlier, and sometimes as the sole signs of amyloidotic polyneuropathies (FAPs). Vitrectomy improves vision in some patients with vitreous amyloidosis.
journal_name
Ophthalmic Genetjournal_title
Ophthalmic geneticsauthors
Long D,Zeng J,Wu LQ,Tang LS,Wang HL,Wang Hdoi
10.3109/13816810.2011.599356subject
Has Abstractpub_date
2012-03-01 00:00:00pages
28-33issue
1eissn
1381-6810issn
1744-5094journal_volume
33pub_type
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journal_title:Ophthalmic genetics
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journal_title:Ophthalmic genetics
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journal_title:Ophthalmic genetics
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journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.3109/13816810.2013.763995
更新日期:2014-03-01 00:00:00
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journal_title:Ophthalmic genetics
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pub_type: 杂志文章
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更新日期:2020-02-01 00:00:00
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journal_title:Ophthalmic genetics
pub_type: 杂志文章,评审
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更新日期:2001-03-01 00:00:00
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journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.3109/13816810.2012.716488
更新日期:2012-12-01 00:00:00
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journal_title:Ophthalmic genetics
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doi:10.1080/13816810.2018.1484927
更新日期:2018-08-01 00:00:00
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journal_title:Ophthalmic genetics
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更新日期:2010-09-01 00:00:00
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journal_title:Ophthalmic genetics
pub_type: 杂志文章
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更新日期:1997-09-01 00:00:00
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journal_title:Ophthalmic genetics
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doi:10.3109/13816810.2015.1136336
更新日期:2017-01-01 00:00:00