Vitreous amyloidosis caused by a Lys55Asn variant in transthyretin: A case report
作者机构：Department of OphthalmologyThe Jinan Second People’s HospitalJinan 250000Shandong ProvinceChina
出 版 物：《World Journal of Clinical Cases》 (世界临床病例杂志)
年 卷 期：2022年第10卷第32期
页 面：12000-12006页
核心收录：
学科分类：1002[医学-临床医学] 100201[医学-内科学(含：心血管病、血液病、呼吸系病、消化系病、内分泌与代谢病、肾病、风湿病、传染病)] 10[医学]
主 题：Vitreous amyloidosis Transthyretin Lys55Asn variant Vitrectomy Case report
摘 要：BACKGROUND Amyloidosis is caused by misfolding of proteins and is characterized by formation of extracellular aggregates of insoluble *** primary effects in the eye include sharp deterioration of visual acuity as a result of vitreous *** to the local and systemic distribution characteristics of amyloid deposits and their fibrin components,amyloidosis can be classified as primary,secondary or ***,we report a typical case of vitreous amyloidosis in hereditary transthyretin amyloidosis(hATTR)to improve ophthalmologists’understanding of the disease and reduce misdiagnosis and *** SUMMARY The patient was a 49-year-old man who complained of progressive visual decline in both eyes over a 2-mo *** systemic diseases such as diabetes or hypertension were reported,and no obvious family history of disease was *** patient’s visual acuity was HM/10 cm in the right eye and 0.06 in the left *** had a transparent cornea in both eyes,with a normal anterior depth,clear aqueous humor,no obvious iris abnormalities,round pupils of approximately 3 mm in diameter,normal direct and indirect light reflexes,and normal intraocular *** various examinations,the patient was diagnosed with binocular vitreous amyloidosis secondary to hATTR associated with a Lys55Asn variant in *** binocular visual acuity recovered to 1.0 after binocular *** Vitreous amyloidosis is rare in the clinic and gene testing can assist the diagnosis accurately and effectively.
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