Unilateral vitreous amyloidosis as the presenting feature of hereditary transthyretin amyloidosis (TTR p.Val50Met): a case report and focused literature review.

Authors

Zixiang Zhang, Haoliang Zhang, Suqin Yu, Weijun Wang, Tong Li

Published in

BMC ophthalmology. Volume 26. Issue 1. Sep 10, 2026. Epub Sep 10, 2026.

Abstract

Hereditary transthyretin amyloidosis (ATTRv) is an autosomal dominant systemic disorder characterized by extracellular amyloid deposition. Ocular manifestations typically present bilaterally, and unilateral vitreous amyloidosis without systemic symptoms or family history is rare. Few reports have documented the laterality pattern of vitreous amyloidosis or its role as an early indicator of systemic disease.
We present a 67-year-old Chinese man who experienced progressive left eye vision loss over 1 year. Dense vitreous opacities in the left eye initially mimicked vitreous hemorrhage or primary intraocular lymphoma. The right eye showed only age-related posterior vitreous detachment and foveal drusen, without clinically apparent vitreous amyloid; its isolated intraocular pressure elevation was not accompanied by optic disc or visual field damage. After exclusion of infectious and neoplastic etiologies through aqueous humor analysis, diagnostic pars plana vitrectomy combined with phacoemulsification and intraocular lens implantation was performed under general anesthesia. Histopathological examination revealed Congo red-positive amyloid deposits with apple-green birefringence. Genetic testing identified a heterozygous pathogenic TTR variant (NM_000371.4:c.148G > A:p.V50M). Postoperatively, decimal visual acuity improved from counting fingers to 0.4 at 1 week and 0.5 + at the last follow-up. No systemic symptoms of amyloidosis were present; systemic evaluation was recommended.
This case demonstrates that ATTRv can present as unilateral vitreous amyloidosis. Our focused PubMed-based review suggests that although vitreous amyloidosis is typically bilateral, unilateral or markedly asymmetric presentation occurs and may be the presenting feature of disease. Late-onset V50M carriers remain at risk for polyneuropathy and cardiomyopathy. Ophthalmologists should consider TTR amyloidosis in unexplained unilateral vitreous opacities and initiate long-term multidisciplinary surveillance.

PMID:
42855664
Bibliographic data and abstract were imported from PubMed on 10 Oct 2026.

Read full publication at:
Please sign in to see all details.

Stats

1-terrible, 9-excellent. How would you rate this publication? Sign in in to submit your rating.

Post a comment

You need to be signed in to post comments. You can sign in here.

Comments

There are no comments yet.