Ocular manifestations in hereditary transthyretin Gly67Glu amyloidosis

Leung, Kai Ching Peter; Ko, Tak Chuen Simon

doi:10.1080/13506129.2019.1609925

Cited by 4 publications

(4 citation statements)

References 5 publications

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“…These results are in line with previous reports 3,5,8,11,12 with variations of different signs prevalent probably because of the different distribution of genetic variants in different geographic areas.…”

Section: Discussionsupporting

confidence: 93%

Ophthalmologic Involvement in Patients With Hereditary Transthyretin Amyloidosis

Ruiz‐Medrano

Puertas

Almazán-Alonso

et al. 2022

Retina

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The aim of this study was to determine the ophthalmologic involvement in patients with hereditary transthyretin amyloidosis and its correlation with the mutations described in the literature.Methods: Cross-sectional, noninterventional study. Fifty-two eyes of 26 consecutive patients diagnosed with hereditary transthyretin amyloidosis who visited the Puerta de Hierro-Majadahonda University Hospital from September 2019 to March 2022. All patients underwent complete ophthalmologic examination and multimodal imaging. Cardiologic, neurologic, digestive, and renal examinations were also recorded.Results: Eighteen eyes of the total (34.61%) showed amyloid-related ocular involvement, vitreous amyloid deposits being the most common ocular manifestation (18/52). Statistically significant differences were found for the presence of vitreous amyloid deposits (P , 0.01), crystalline amyloid deposits (P , 0.05), parenchymal amyloid deposits (P , 0.01), and vascular alterations (P , 0.01) when comparing affected and unaffected eyes. Moreover, affected eyes showed worse best-corrected visual acuity (P , 0.01).Conclusion: Ocular manifestations are present in a substantial number of patients with ATTR that could potentially lead to devastating consequences to patients' best-corrected visual acuity and quality of life. Therefore, it is important to emphasize the importance of multidisciplinary management and ophthalmologic assessment, follow-up and surgical treatment when necessary. To the best of our knowledge, this represents the largest series in Spain of amyloidosis' ophthalmologic involvement.

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Section: Discussionsupporting

confidence: 93%

Ophthalmologic Involvement in Patients With Hereditary Transthyretin Amyloidosis

Ruiz‐Medrano

Puertas

Almazán-Alonso

et al. 2022

Retina

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“…[15] In this phase 3 trial of 441 patients with ATTR-CA, Tafamidis showed a reduction in cardiovascular hospitalization rate (relative risk ratio of 0.68) and a reduction in all-cause mortality after approximately 18 months of treatment. [16] In conclusion, we reported the misdiagnosed TTR in a 91-year-old man with ATTRwt-CA. To date, ATTRwt-CA cases past 90 years over the world have rarely been reported.…”

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confidence: 63%

A misdiagnosed transthyretin in an elderly with myocardial hypertrophy and atrioventricular block: a case report

Huang

Zhang

et al. 2023

Journal of Geriatric Cardiology

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Cardiac amyloidosis (CA) is an infiltrative and restrictive cardiomyopathy that leads to heart failure (HF), decreased quality of life, and death. [1][2][3] There are two main subtypes of the disease, transthyretin cardiac amyloidosis (ATTR-CA) and immunoglobulin light chain CA. The former was further subdivided into wild-type (ATTRwt-CA) and or variant (ATTRv-CA) according to the presence or absence of a mutations in the transthyretin (TTR) gene. [4,5] The majority of patients with ATTRwt-CA are over 75 years of age and 80%-90% are male. [2,3] The patients suffering from ATTRwt-CA display symptoms of HF with atrioventricular block (AVB) as the first symptom in more than 73.5% of patients. [4] The median survival following diagnosis ranges from 43 months to 57 months with poor life quality and low survival rates. [4] An autopsy study of people over 85 years showed that 25% of them had TTR deposits in their hearts. [6] ATTR-CA is a systemic disease that necessitates multidisciplinary approaches for diagnosis and treatment. [5] However, with insufficient clinical knowledge, ATTR-CA showed a high rate of misdiagnosis and missed diagnosis.A 91-year-old man presented to Beijing Friendship Hospital, Capital Medical University, Beijing, China with complains of shortness of breath after exercise and lower limb edema for three weeks. Seven years ago, he was diagnosed with hypertrophic cardiomyopathy with interventricular septum of 16-18 mm, third-degree AVB and had a dual chamber implantable cardioverter defibrillator implantation two years ago. His medical history was hypertension, coronary atherosclerotic heart disease, and cardiac dysfunction (NYHA class III). He denied on family history of related diseases, his both brothers have high life expectancy and

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“…TTR can transport thyroid hormones and vitamin A. Presently, there are at least 13 TTR gene mutations related to ocular amyloidosis in China, the most common of which include p.R54G, p.K55T, p.G67E, p.L75R, and p.G103R ( Yining et al, 2011 ; Long et al, 2012 ; Zhang et al, 2013 ; Leung and Ko, 2019 ). Ocular amyloidosis is a rare disease in China.…”

Section: Introductionmentioning

confidence: 99%

“…Ocular amyloidosis is a rare disease in China. Only 39 families with this disease have been reported ( Leung and Ko, 2019 ). This study described an ocular amyloidosis patient with a p.G103R mutation in TTR who presented with vitreous hemorrhage.…”

Section: Introductionmentioning

confidence: 99%

Case Report: Hereditary transthyretin (ATTRv) amyloidosis: The p.G103R mutation of the transthyretin gene in a Han Chinese family is associated with vitreous hemorrhage

Shen

Yu²,

Lin³

et al. 2022

Front. Genet.

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Hereditary transthyretin (ATTRv) amyloidosis is a rare disease caused by transthyretin gene (TTR) mutation. We identified that the p.G103R mutation of the TTR gene in a Han Chinese family was associated with vitreous hemorrhage. The proband was a 48-year-old woman who had progressive visual impairment in both eyes for 12 years. A Glass wool-like posterior vitreous cortex attached to the posterior retinal surface of both eyes was found using ocular coherence tomography. Visual acuity improved after the first vitrectomy. Two years later, the patient underwent two more vitrectomies because of vitreous opacity recrudescence. Four years later, she presented with vitreous hemorrhage in the right eye. The vitreous fluids acquired during the vitrectomy showed increased vascular endothelial growth factor, basic fibroblast growth factor, interleukin-6, interleukin-10, vascular cell adhesion molecule, and interleukin-8. Mutation sequencing revealed a heterozygous mutation in nucleotide c.307G > C (p.G103R) in exon 3 of the TTR gene in the proband (IV-13), her daughter (IV-9), and her fourth sister (III-11). To our knowledge, this is the first case of ATTRv amyloidosis caused by a p.G103R mutation of the TTR gene associated with vitreous hemorrhage in China.

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Ocular manifestations in hereditary transthyretin Gly67Glu amyloidosis

Cited by 4 publications

References 5 publications

Ophthalmologic Involvement in Patients With Hereditary Transthyretin Amyloidosis

Ophthalmologic Involvement in Patients With Hereditary Transthyretin Amyloidosis

A misdiagnosed transthyretin in an elderly with myocardial hypertrophy and atrioventricular block: a case report

Case Report: Hereditary transthyretin (ATTRv) amyloidosis: The p.G103R mutation of the transthyretin gene in a Han Chinese family is associated with vitreous hemorrhage

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