Accumulations of pathological amyloid protein in the vitreous can be a pathognomonic morphological sign of systemic amyloidosis, which is characterized by deposition of insoluble fibrillar protein aggregates (amyloid) in various organs and tissues. The article describes a clinical case of a female 65-year-old patient with bilateral vitreous floaters and histologically confirmed vitreous amyloidosis on the right eye. The patient had undergone YAG laser vitreolysis of the right eye 3 years ago on the Ultra Q Reflex system («Ellex», Australia) to treat an atypical Weiss ring. Diagnosis of vitreous amyloidosis was confirmed using the following equipment: video slit lamp SL9900 («CSO», Italy), optical coherence tomography system Solix («Optovue», USA), B-scan Plus («Accutome», USA), microscope CX41RF («Olympus Corporation», Japan). Due to significant visual deterioration in the right eye, the patient underwent vitrectomy. Microscopic examination of the surgical sample showed the presence of amyloid deposits revealed by the brick-red specific staining with congo red dye and apple-green birefringence of the stained areas in polarized light.
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http://dx.doi.org/10.17116/oftalma202113704198 | DOI Listing |
Ophthalmol Retina
January 2025
State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangzhou, China.
J Biol Chem
November 2024
Department of Clinical Microbiology, Umeå University, Umeå, Sweden. Electronic address:
Transthyretin (TTR) amyloidosis is a progressive disorder characterized by peripheral neuropathy, autonomic dysfunction, and cardiomyopathy. The precise mechanism by which TTR misfolds and forms fibrils in vivo remains incompletely understood, posing challenges to the development of effective therapeutics. In this study, we reveal that the recently identified nonnative pathological species of TTR (NNTTR), which is enriched in the plasma of ttr-val30met gene carriers, exhibits strong amyloidogenic properties, making it a promising therapeutic target.
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October 2024
Department of Ophthalmology, Affiliated Hospital of Zunyi Medical University, Zunyi, China.
Background: This study evaluated the clinical data on ophthalmic follow-up and treatment efficacy of hereditary vitreoretinal amyloidosis kindred due to transthyretin Gly83Arg variant over a 15-year follow-up period.
Methods: The clinical data of patients with hereditary ATTRG83R amyloidosis from 2006 to 2021 were analysed retrospectively. Sanger sequencing of the transthyretin gene, detailed medical history, pedigree charting, and systemic and ophthalmic examinations were carried out in all patients.
Structure
December 2024
Center for Alzheimer's and Neurodegenerative Diseases, University of Texas Southwestern Medical Center (UTSW), Dallas, TX 75390, USA; Department of Biophysics, University of Texas Southwestern Medical Center (UTSW), Dallas, TX 75390, USA; Peter O'Donnell Jr Brain Institute, University of Texas Southwestern Medical Center (UTSW), Dallas, TX 75390, USA. Electronic address:
Amyloidogenic transthyretin (ATTR) amyloidosis is a systemic disease characterized by the deposition of amyloid fibrils made of transthyretin. Transthyretin is primarily produced in tetrameric form by the liver, but also by retinal epithelium and choroid plexus. The deposition of these fibrils in the myocardium and peripheral nerves causes cardiomyopathies and neuropathies, respectively.
View Article and Find Full Text PDFFront Neurol
September 2024
Department of Neurology, Shenzhen People's Hospital (The Second Clinical Medical College, Jinan University, The First Affiliated Hospital, Southern University of Science and Technology), Shenzhen, China.
Background: Hereditary transthyretin amyloidosis (ATTRv) is an autosomal dominant inherited systematic disease primarily affecting the peripheral and autonomic nervous system, heart, eyes and kidney. Over 140 variants have been identified worldwide, with the Gly103Arg variant reported exclusively in China. This variant is characterized by early onset eye manifestations, making accurate and timely diagnosis difficult.
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