Characteristics of ocular involvement in Chinese patients with hereditary transthyretin amyloidosis_Chinese Journal of Ocular Fundus Diseases

Authors：

Feng Yanbing ¹ ,  Weng Wenqing ¹ , He Yanyan ¹ , Wu Yibo ¹ , Zhu Yixing ² , Deng Chao ² , Zhu Yongwei ¹

1. Department of Ophthalmology, Zhejiang Chinese Medical University Affiliated Jiaxing TCM Hospital, Jiaxing Eye Hospital, Jiaxing 314000, China;
2. The Third Clinical Medical College of Zhejiang University of Traditional Chinese Medicine, Hangzhou 310053, China;

Corresponding author：

Weng Wenqing, Email: wengwenq@163.com

Keywords：

Transthyretin; Amyloidosis; Ocular involvement; Pars plana vitrectomy; Review

DOI：

10.3760/cma.j.cn511434-20220317-00153

Video：

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Hereditary thyroxine protein amyloidosis (ATTRv) is one of the most common forms of systemic and ocular amyloidosis, characterized by autosomal dominant inheritance, incomplete penetrance, and diverse manifestations. ATTRv deposition leads to visual impairment and even irreversible visual loss, which has a negative impact on the quality of life of patients. The diagnostic rate of pathological examination and genetic testing in ATTRv patients is low, and the detection rate of systemic amyloid lesions is low. We need to increase our awareness of this disease and gain a deeper understanding of its systemic manifestations and corresponding examination methods; genetic testing is conducted on the proband's family to investigate the relationship between different gene mutations and eye manifestations. In the future, multidisciplinary consultations can be conducted to jointly diagnose and treat patients with ATTRv eye involvement, conducting large-scale and long-term follow-up studies on the early clinical characteristics, treatment plans, efficacy, possible complications, and early prevention, in order to improve clinical diagnosis rate, reduce misdiagnosis rate, and improve patient prognosis.

Citation： Feng Yanbing, Weng Wenqing, He Yanyan, Wu Yibo, Zhu Yixing, Deng Chao, Zhu Yongwei. Characteristics of ocular involvement in Chinese patients with hereditary transthyretin amyloidosis. Chinese Journal of Ocular Fundus Diseases, 2023, 39(9): 792-798. doi: 10.3760/cma.j.cn511434-20220317-00153 Copy

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