Ophthalmic manifestations in a Chinese family with familial amyloid polyneuropathy due to a TTR Gly83Arg mutation

Liu, T; Zhang, B; Jin, Xin; Wang, W; Lee, Jongdae; Li, J; Hu, Yuan; Cheng, Xuan

doi:10.1038/eye.2013.217

Cited by 22 publications

(37 citation statements)

References 29 publications

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“…However, TTR‐FAP is now believed to have worldwide distribution (Benson and Kincaid, ) . More and more TTR‐FAP patients in Han Chinese people have been reported (Table ) (Yamamoto et al , ; Chou et al , ; Lachmann et al , ; Li et al , , ; Lim et al , ; Mak et al , , ; Liu et al , , , ; Yang et al , ; Chen et al , ; Zhang et al , , ; Long et al , ; Zou et al , ; Lv et al , ; Meng et al , ) . Here, we identified four different TTR heterozygous mutations already known to be associated with FAP in four unrelated families and among them, mutations Thr49Ala(p.Thr69Ala) and Tyr116Ser(p.Tyr136Ser) were detected for the first time in the Chinese population.…”

Section: Discussionmentioning

confidence: 99%

“…Clinical phenotypes of FAP are known to vary in different kindreds or individuals owing to the diverse variants of TTR . The mutation Gly83Arg(p.Gly83Arg) mainly presented vitreous opacity in the Han Chinese people (Zhang et al , ; Liu et al , ) , while the common mutation Val30Met(p.Val50Met) in endemic areas primarily associates with polyneuropathy (Ando et al 2013) . Population origin and geographic location are also important determinants of symptoms.…”

Section: Discussionmentioning

confidence: 99%

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Clinical features of familial amyloid polyneuropathy carrying transthyretin mutations in four Chinese kindreds

Liu

Wang

et al. 2017

J Peripheral Nervous Sys

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Transthyretin-related familial amyloid polyneuropathy (TTR-FAP) is a rare hereditary disorder, characterized by a length-dependent polyneuropathy and dysfunction of various organs. Wide phenotypic heterogeneity makes early diagnosis difficult. In this study, we reviewed the clinical and electrophysiological features of four unrelated Chinese families with genetically confirmed TTR-FAP. Sequence analysis of TTR gene revealed the presence of four different mutations: Thr49Ala(p.Thr69Ala), Leu55Arg(p.Leu75Arg), Tyr116Ser(p.Tyr136Ser), and Ala36Pro(p.Ala56Pro) from six affected patients and two asymptomatic individuals. Two mutations, Thr49Ala(p.Thr69Ala) and Tyr116Ser(p.Tyr136 Ser), were detected in Chinese FAP patients for the first time. All affected patients manifested a progressive sensorimotor polyneuropathy starting in the lower limbs. The majority of the examined patients displayed cardiomyopathy and vitreous opacities. To avoid misdiagnosis, clinicians should consider screening for TTR variants in patients presenting with progressive polyneuropathy of undetermined origins.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Clinical features of familial amyloid polyneuropathy carrying transthyretin mutations in four Chinese kindreds

Liu

Wang

et al. 2017

J Peripheral Nervous Sys

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“…Systematic assessment and management of cardiac involvement is critical because cardiac manifestations worsen with disease progression and are more likely to cause death [18]. Ophthalmic manifestations have been reported in 20% (glaucoma and/or vitreous opacities) to 70% (dry eye) of patients with ATTR amyloidosis with PN [57][58][59][60].…”

Section: Other Organ Involvementmentioning

confidence: 99%

Expert consensus recommendations to improve diagnosis of ATTR amyloidosis with polyneuropathy

et al. 2020

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Amyloid transthyretin (ATTR) amyloidosis with polyneuropathy (PN) is a progressive, debilitating, systemic disease wherein transthyretin protein misfolds to form amyloid, which is deposited in the endoneurium. ATTR amyloidosis with PN is the most serious hereditary polyneuropathy of adult onset. It arises from a hereditary mutation in the TTR gene and may involve the heart as well as other organs. It is critical to identify and diagnose the disease earlier because treatments are available to help slow the progression of neuropathy. Early diagnosis is complicated, however, because presentation may vary and family history is not always known. Symptoms may be mistakenly attributed to other diseases such as chronic inflammatory demyelinating polyradiculoneuropathy (CIDP), idiopathic axonal polyneuropathy, lumbar spinal stenosis, and, more rarely, diabetic neuropathy and AL amyloidosis. In endemic countries (e.g., Portugal, Japan, Sweden, Brazil), ATTR amyloidosis with PN should be suspected in any patient who has length-dependent small-fiber PN with autonomic dysfunction and a family history of ATTR amyloidosis, unexplained weight loss, heart rhythm disorders, vitreous opacities, or renal abnormalities. In nonendemic countries, the disease may present as idiopathic rapidly progressive sensory motor axonal neuropathy or atypical CIDP with any of the above symptoms or with bilateral carpal tunnel syndrome, gait disorders, or cardiac hypertrophy. Diagnosis should include DNA testing, biopsy, and amyloid typing. Patients should be followed up every 6-12 months, depending on the severity of the disease and response to therapy. This review outlines detailed recommendations to improve the diagnosis of ATTR amyloidosis with PN.

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“…It can be classified into three main types, according to the amyloid-forming precursor protein. The most common is transthyretin (TTR), and the others are apolipoprotein A-1 (ApoA1 ratio) and gelsolin (AGel) [ 9 ].…”

Section: Introductionmentioning

confidence: 99%

Ocular Manifestations and Therapeutic Options in Patients with Familial Amyloid Polyneuropathy: A Systematic Review

Martins

Rosa

Costa

et al. 2015

BioMed Research International

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Purpose. This paper aims to review the morphological and functional characteristics of patients affected by familial amyloid polyneuropathy (FAP), with greater focus on type I and its progression after liver transplantation. We also analyse therapeutic options for the ophthalmic manifestations. Methods. The literature from 2002 through 2015 was reviewed, with a total of 45 articles studied, using the key terms related to amyloidosis and its therapeutic approaches. Information was collated, evaluated, critically assessed, and then summarised in its present form. Pathophysiology and Treatment. FAP results from mutation of the transthyretin gene, with Val30Met being the most frequent substitution. The symptoms are those typical of a sensorimotor autonomic neuropathy and can be halted with liver transplantation. Nowadays there are new medical therapies that delay the progression of the systemic neuropathy. However, there are still no options to avoid ocular disease. Conclusion. The main ocular manifestations in patients with FAP type I are amyloid deposition in the vitreous, dry eye, and secondary glaucoma. Despite liver transplantation, eye synthesis of amyloid persists and is associated with progressive ocular manifestations, which require continued ophthalmologic follow-up. New therapeutic strategies are therefore needed, particularly to target the ocular synthesis of the abnormal protein.

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Ophthalmic manifestations in a Chinese family with familial amyloid polyneuropathy due to a TTR Gly83Arg mutation

Cited by 22 publications

References 29 publications

Clinical features of familial amyloid polyneuropathy carrying transthyretin mutations in four Chinese kindreds

Clinical features of familial amyloid polyneuropathy carrying transthyretin mutations in four Chinese kindreds

Expert consensus recommendations to improve diagnosis of ATTR amyloidosis with polyneuropathy

Ocular Manifestations and Therapeutic Options in Patients with Familial Amyloid Polyneuropathy: A Systematic Review

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