Case Report
Copyright ©The Author(s) 2022. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Nov 16, 2022; 10(32): 12000-12006
Published online Nov 16, 2022. doi: 10.12998/wjcc.v10.i32.12000
Vitreous amyloidosis caused by a Lys55Asn variant in transthyretin: A case report
Yue Tan, Yuan Tao, Yan-Juan Sheng, Chen-Ming Zhang
Yue Tan, Yuan Tao, Yan-Juan Sheng, Chen-Ming Zhang, Department of Ophthalmology, The Jinan Second People’s Hospital, Jinan 250000, Shandong Province, China
Author contributions: Tan Y drafted the manuscript and participated in literature retrieval; Tao Y worked on the manuscript, participated in literature retrieval and put forward suggestions for improving the content; Sheng YJ participated in literature retrieval; Zhang CM supervised the work, participated in literature retrieval, and wrote the manuscript; all authors have read and approved the final manuscript.
Informed consent statement: Informed written consent was obtained from the patient for publication of this report and any accompanying images.
Conflict-of-interest statement: The authors declare that they have no conflict of interest to report.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Chen-Ming Zhang, PhD, Professor, Department of Ophthalmology, The Jinan Second People’s Hospital, No. 148 Jingyi Road, Huaiyin District, Jinan 250000, Shandong Province, China. chenming-zhang@163.com
Received: July 29, 2022
Peer-review started: July 29, 2022
First decision: September 5, 2022
Revised: September 22, 2022
Accepted: October 11, 2022
Article in press: October 11, 2022
Published online: November 16, 2022
Processing time: 101 Days and 21.4 Hours
Abstract
BACKGROUND

Amyloidosis is caused by misfolding of proteins and is characterized by formation of extracellular aggregates of insoluble fibrin. The primary effects in the eye include sharp deterioration of visual acuity as a result of vitreous opacity. According to the local and systemic distribution characteristics of amyloid deposits and their fibrin components, amyloidosis can be classified as primary, secondary or familial. Therefore, we report a typical case of vitreous amyloidosis in hereditary transthyretin amyloidosis (hATTR) to improve ophthalmologists’ understanding of the disease and reduce misdiagnosis and recurrence.

CASE SUMMARY

The patient was a 49-year-old man who complained of progressive visual decline in both eyes over a 2-mo period. No systemic diseases such as diabetes or hypertension were reported, and no obvious family history of disease was identified. The patient’s visual acuity was HM/10 cm in the right eye and 0.06 in the left eye. He 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 pressure. After various examinations, the patient was diagnosed with binocular vitreous amyloidosis secondary to hATTR associated with a Lys55Asn variant in TTR. The binocular visual acuity recovered to 1.0 after binocular vitrectomy.

CONCLUSION

Vitreous amyloidosis is rare in the clinic and gene testing can assist the diagnosis accurately and effectively.

Keywords: Vitreous amyloidosis; Transthyretin; Lys55Asn variant; Vitrectomy; Case report

Core Tip: We report a case of binocular vitreous amyloidosis. Eye changes existed in isolation and no systemic lesions were present. Genetic sequencing revealed that the patient was diagnosed with binocular vitreous amyloidosis secondary to the presence of hereditary transthyretin amyloidosis associated with a transthyretin Lys55Asn genetic variant. Our study demonstrates that the accurate diagnosis of vitreous amyloidosis is very important and vitrectomy can effectively treat this particular disease phenotype.