Multimodal retinal imaging in a Chinese kindred with familial amyloid polyneuropathy secondary to transthyretin Ile107Met mutation

Lv, William Weijia; Chen, J; Chen, W; Hou, Ping; Pang, Chi Pui; Chen, Haoyu

doi:10.1038/eye.2014.10

Cited by 10 publications

(7 citation statements)

References 28 publications

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“…The standard ophthalmological examination including dilated fundus examination with a 90D lens can detect most of the vascular changes associated with ATTRv. The main vascular clinical findings described in ATTRv patients were: tortuous retinal vessels 7 , 11–13 microaneurysms 10 , 12 retinal hemorrhages 5 , 7 , 10 , 14–18 sheathing of retinal vessels 7 , 14 , 17 , 18 whitish amyloid deposits along retinal arteries 7 , 12 , 15 , 19–21 obliteration of retinal vessels 5 , 7 , 15 , 20 pre-retinal neovascularization 10 vitreous hemorrhage 18 , 22 iris neovascularization 10 , 22 (anterior segment biomicroscopy). …”

Section: Resultsmentioning

confidence: 99%

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Monitoring the Patient with Retinal Angiopathy Associated with Hereditary Transthyretin Amyloidosis: Current Perspectives

Marques¹,

Coelho²,

Menéres³

et al. 2022

OPTH

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Retinal angiopathy associated with hereditary transthyretin amyloidosis (ATTRv), if untreated, may lead to irreversible vision loss. Our purpose was to systematically review the clinical and imaging features of retinal angiopathy associated with ATTRv and assemble a monitoring approach for these patients. All types of original research studies reporting clinical and imaging findings on retinal angiopathy associated with ATTRv were included. The most common clinical findings were tortuous retinal vessels, microaneurysms, retinal hemorrhages, sheathing of retinal vessels, whitish amyloid deposits along retinal arteries, obliteration of retinal vessels, vitreous hemorrhage, retinal and iris neovascularization. The most relevant imaging findings were hyperautofluorescence of perivessel amyloid deposits; delayed arterial filling, vascular leakage, and retinal ischemia on fluorescein angiography; late hypercyanescence along the choroidal arteries on indocyanine green angiography; perivascular hyperreflective material, needle-shaped deposits on the retinal surface and macular edema on optical coherence tomography (OCT) and attenuated retinal vascular network on OCT-angiography. ATTRv patients should be strictly followed to detect and treat retinal angiopathy, avoiding complications. Both panretinal photocoagulation and intravitreal anti-vascular endothelial growth factor have been used to treat retinal angiopathy in ATTRv. In an individual that presents with retinal angiopathy of unknown etiology, ATTRv should be considered as in the differential diagnosis, even out of the initial core countries. The prognostic value of subclinical findings, namely in OCT-A, is not yet established.

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Section: Resultsmentioning

confidence: 99%

“…One study reported better visualization of amyloid deposits along the vessels with red-free confocal retinography, versus conventional retinography. 19 Ultra-widefield retinography may be useful to detect and document peripheral lesions. 7 …”

Section: Resultsmentioning

confidence: 99%

Monitoring the Patient with Retinal Angiopathy Associated with Hereditary Transthyretin Amyloidosis: Current Perspectives

Marques¹,

Coelho²,

Menéres³

et al. 2022

OPTH

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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 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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“…In Taiwan, TTR Ala97Ser is the most common mutation 9,10 . However, a limited number of cases of ATTR have been reported in the form of case reports in mainland China 11–50 . The clinical and genetic profiles of ATTR in mainland China remain elusive.…”

Section: Introductionmentioning

confidence: 99%

Hereditary transthyretin amyloidosis in mainland China: a unicentric retrospective study

Wang

et al. 2021

Ann Clin Transl Neurol

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Objective This study aims to report the genotypes and phenotypes of hereditary transthyretin amyloidosis (ATTR) in a large Chinese cohort, yet the clinical and genetic profiles of ATTR remain elusive in mainland China. Methods Fifty‐four patients with molecularly confirmed ATTR from 39 unrelated families were identified by sequencing the TTR gene. Sural nerve biopsies were performed in 40 of these cases. The clinical and electrophysiological data were retrospectively collected and analyzed. Results The male/female ratio was 42:12. The average age of patients at the onset of the disease was 47.8 ± 13.0 years. The late‐onset type occurred in 29 cases (53.7%). Twenty‐two probands (56.4%) had a family history with ATTR. The initial symptoms were limb paresthesia in 33 cases (61.1%), autonomic dysfunction in 15 cases (27.8%), and blurred vision in 6 cases (11.1%). A total of 22 different TTR mutations were identified, including Val30Met (25.6%) in 10 families in North China and Ala97Ser in 4 families (10.3%) in South China. Electrophysiological studies revealed general sensorimotor axonal polyneuropathy in 33/44 cases (75.0%), mixed neuropathy with axonal and demyelinating impairment features in 9/44 cases (20.5%) and isolated carpal tunnel syndrome in two cases. Sural nerve biopsies revealed positive Congo red staining in 16/40 cases (40.0%). Conclusion Chinese patients with ATTR exhibited heterogeneous TTR genotypes and clinical phenotypes. Val30Met remains the most common mutation type in mainland China.

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Multimodal retinal imaging in a Chinese kindred with familial amyloid polyneuropathy secondary to transthyretin Ile107Met mutation

Cited by 10 publications

References 28 publications

Monitoring the Patient with Retinal Angiopathy Associated with Hereditary Transthyretin Amyloidosis: Current Perspectives

Monitoring the Patient with Retinal Angiopathy Associated with Hereditary Transthyretin Amyloidosis: Current Perspectives

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

Hereditary transthyretin amyloidosis in mainland China: a unicentric retrospective study

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