Characteristics of ocular involvement in Chinese patients with hereditary transthyretin amyloidosis
10.3760/cma.j.cn511434-20220317-00153
- VernacularTitle:中国遗传性转甲状腺素蛋白淀粉样变性患者眼部受累特征研究与进展
- Author:
Yanbing FENG
1
;
Wenqing WENG
;
Yanyan HE
;
Yibo WU
;
Yixing ZHU
;
Chao DENG
;
Yongwei ZHU
Author Information
1. 浙江中医药大学附属嘉兴中医院眼科 嘉兴市眼科医院, 嘉兴 314000
- Keywords:
Transthyretin;
Amyloidosis;
Ocular involvement;
Pars plana vitrectomy;
Review
- From:
Chinese Journal of Ocular Fundus Diseases
2023;39(9):792-798
- CountryChina
- Language:Chinese
-
Abstract:
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.
