Clinical Snapshot
Vitreous Opacities in Familial Transthyretin Amyloidosis
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A female patient aged in her 60s had been noticing increasing visual disturbances due to floaters for 2 years. She had undergone a liver transplantation at the age of 41 years. This was due to familial transthyretin (TTR) amyloidosis with a p.Val50Met mutation in the TTR gene, which led to polyneuropathy and cardiomyopathy. The TTR (with a beta-sheet structure) that is altered by the mutation is deposited in various organs, sometimes causing functional impairment. Our patient’s medication included irbesartan, bisoprolol, rivaroxaban, and tacrolimus. Her best-corrected visual acuity was 0.5 on the right and 1.25 on the left. Slit-lamp exam and optical coherence tomography revealed acellular vitreous opacities on the right side; the iris and retina as well as the left eye were normal. Following removal of the vitreous opacities by means of vitrectomy, visual acuity increased to 1.0. Histology revealed a Congo red-positive amorphous material with yellowish-green birefringence under polarization as an indication of amyloid. TTR amyloid had evidently built up intraocularly in the retinal pigment epithelium and in the epithelium of the ciliary body, resulting in vitreous amyloidosis. The incidence of this increases with disease duration in familial transthyretin amyloidosis, in particular following liver transplantation.
Prof. Dr. med. Claudia Auw-Haedrich, Prof. Dr. med Thomas Neß, Klinik für Augenheilkunde, Albert-Ludwigs-Universität Freiburg, claudia.auw@gmail.com
Conflict of interest statement: The authors declare that no conflict of interests exists.
Translated from the original German by Christine Rye.
Cite this as: Auw-Haedrich C, Neß T: Vitreous opacities in familial transthyretin amyloidosis. Dtsch Arztebl Int 2025; 122: 172b. DOI: 10.3238/arztebl.m2024.0225
