The etiology of bilateral vitreous opacification in a 72-year-old man was undiagnosed until after a second vitrectomy when the aspirate was tested with Congo red and found to stain for amyloid. Failure to recognize the significance of a mild peripheral neuropathy delayed the diagnosis. Visual acuity OU remained 20/40 for one year after completion of multiple ocular surgeries. Experience from this case suggests that amyloidosis should be considered in all patients with unexplained vitreous infiltration. A conjunctival biopsy may be helpful diagnostically, and removal of as much cortical and retrolental vitreous as is safe may reduce the incidence of reopacification.
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Eur J Rheumatol
July 2024
Department of Rheumatology, Hospital J.M. Cullen, Santa Fe, Argentina.
Eye (Lond)
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.
Semin Neurol
October 2024
Department of Neurology, University of Pennsylvania, Philadelphia, Pennsylvania.
In the last decade, we have witnessed dramatic improvements in the diagnosis, workup, management, and monitoring of patients with hereditary transthyretin amyloidosis (ATTRv). Updated imaging techniques (e.g.
View Article and Find Full Text PDFJAMA Ophthalmol
September 2024
Ocular Oncology Service, Wills Eye Hospital, Thomas Jefferson University, Philadelphia, Pennsylvania.
Orphanet J Rare Dis
September 2024
Pfizer S.L.U., Madrid, Spain.
Background: Variant transthyretin amyloidosis (ATTRv) is a rare multisystemic disorder caused by mutations in the transthyretin (TTR) gene. The aim of the present work was to describe the clinical profile of asymptomatic carriers (AC) and Coutinho stage 1 ATTRv patients in Spain.
Methods: National, multicentre, cross-sectional study that included 86 AC and 19 patients diagnosed in the previous 12 months to enrolment.
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