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

backgroundHereditary 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. CASE PRESENTATION: 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.

conclusionsThis 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.