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Ocular manifestations in systemic amyloidosis
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Keywords

Amyloidosis
Ocular manifestations
Multidisciplinary approach

How to Cite

Ocular manifestations in systemic amyloidosis. (2026). Electronic Journal Collection Health, 26(4), e23249. https://doi.org/10.25248/reas.e23249.2026

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Abstract

Objective: To describe a case of AL amyloidosis with ocular involvement, analyzing its clinical manifestations, complementary exams, and therapeutic management. Case report: A 52-year-old female patient with a previous diagnosis of AL amyloidosis who was undergoing chemotherapy presented with progressive low visual acuity and epiphora for one year and nine months. She reported worsening of symptoms, accompanied by eyelid edema, macroglossia, and dyspnea. The examination revealed bilateral restricted ocular mobility (“frozen stare”), in addition to periorbital edema and hematoma in the right eye. Computed tomography revealed thickening of the bilateral retroorbital muscles. Laboratory tests indicated increased proteinuria and the presence of lambda light chains in urinary immunofixation. The patient received multidisciplinary follow-up, including clinical support and therapeutic adjustments for symptom management. Final considerations: Ocular involvement in AL amyloidosis is a relevant manifestation, which may compromise visual function and quality of life of patients. Early identification and multidisciplinary follow-up are essential for symptom control and prevention of complications. This case highlights the importance of detailed ophthalmologic evaluation and appropriate management of amyloidosis, emphasizing the need for greater awareness of its systemic and ophthalmologic manifestations.

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References

ALEHASHEMI S, et al. Anakinra‐Associated Systemic Amyloidosis. Arthritis & Rheumatology, 2024; 76(1): 100–106.

ANAND SK, et al. Systemic Amyloidosis and Kidney Transplantation: An Update. Seminars in Nephrology, 2024; 44(1): 151496.

BERENDS M, et al. Neurofilament Light Chains in Systemic Amyloidosis: A Systematic Review. International Journal of Molecular Sciences, 2024; 25(7): 3770.

BOU ZERDAN M, et al. Systemic AL amyloidosis: current approach and future direction. Oncotarget, 2023; 14(1): 384–394.

COHEN OC, WECHALEKAR AD. Systemic amyloidosis: moving into the spotlight. Leukemia, 2020; 34(5): 1215–1228.

CUDDY SAM, FALK RH. Amyloidosis as a Systemic Disease in Context. Canadian Journal of Cardiology, 2020; 36(3): 396–407.

D’AGUANNO V, et al. Systemic Amyloidosis: a Contemporary Overview. Clinical Reviews in Allergy & Immunology, 2020; 59(3): 304–322.

DONNELLY JP, et al. Carpal Tunnel Syndrome: A Potential Early, Red-Flag Sign of Amyloidosis. The Journal of Hand Surgery, 2019; 44(10): 868–876.

DORBALA S, KIJEWSKI MF. Molecular Imaging of Systemic and Cardiac Amyloidosis: Recent Advances and Focus on the Future. Journal of Nuclear Medicine, 2023; 64(Suppl 2): 20S–28S.

FALK RH, et al. AL (Light-Chain) Cardiac Amyloidosis. Journal of the American College of Cardiology, 2016; 68(12): 1323–1341.

FEITOSA VA, et al. Renal amyloidosis: a new time for a complete diagnosis. Brazilian Journal of Medical and Biological Research, 2022; 55(1): 1–30.

GEORGIN-LAVIALLE S, GRATEAU G. Aspects cliniques des amyloses systémiques en 2024. Annales de Pathologie, 2024; 44(6): 407–413.

GODARA A, PALLADINI G. Monoclonal Antibody Therapies in Systemic Light-Chain Amyloidosis. Hematology/Oncology Clinics of North America, 2020; 34(6): 1145–1159.

KAKU M, BERK JL. Neuropathy Associated with Systemic Amyloidosis. Seminars in Neurology, 2019; 39(5): 578–588.

KARAM S, et al. Renal AA amyloidosis: presentation, diagnosis, and current therapeutic options: a review. Kidney International, 2023; 103(3): 473–484.

LEIBOVITCH I, et al. Periocular and orbital amyloidosis: clinical characteristics, management, and outcome. Ophthalmology, 2006; 113(9): 1657–1664.

MUCHTAR E, et al. Systemic amyloidosis from A (AA) to T (ATTR): a review. Journal of Internal Medicine, 2021; 289(3): 268–292.

MUCHTAR E, et al. Graded Cardiac Response Criteria for Patients With Systemic Light Chain Amyloidosis. Journal of Clinical Oncology, 2023; 41(7): 1393–1403.

NAMIRANIAN D, GEISLER S. Neuromuscular Complications of Systemic Amyloidosis. The American Journal of Medicine, 2022; 135(1): S13–S19.

NICOL M, et al. Thromboembolism and bleeding in systemic amyloidosis: a review. ESC Heart Failure, 2022; 9(1): 11–20.

PEREIRA IA, et al. Uncovering the knowledge about systemic amyloidosis relevant to the rheumatologists. Advances in Rheumatology, 2024; 64(1): 71.

PICKEN MM. The Pathology of Amyloidosis in Classification: A Review. Acta Haematologica, 2020; 143(4): 322–334.

RUBERG FL, MAURER MS. Cardiac Amyloidosis Due to Transthyretin Protein. JAMA, 2024; 331(9): 778.

SANCHORAWALA V, et al. Guidelines for high dose chemotherapy and stem cell transplantation for systemic AL amyloidosis: EHA-ISA working group guidelines. Amyloid, 2022; 29(1): 1–7.

SANCHORAWALA V. Systemic Light Chain Amyloidosis. New England Journal of Medicine, 2024; 390(24): 2295–2307.

VAXMAN I, GERTZ M. When to Suspect a Diagnosis of Amyloidosis. Acta Haematologica, 2020; 143(4): 304–311.

VEELKEN K, et al. Lokale und systemische Leichtkettenamyloidosen bei Patienten mit rheumatologischen Erkrankungen. Zeitschrift für Rheumatologie, 2020; 79(7): 660–668.

WECHALEKAR AD, et al. Guidelines for non-transplant chemotherapy for treatment of systemic AL amyloidosis: EHA-ISA working group. Amyloid, 2023; 30(1): 3–17.

WECHALEKAR AD, et al. Systemic amyloidosis. The Lancet, 2016; 387(10038): 2641–2654.