Vitreous amyloidosis in two sisters as the indication of transthyretin-related familial form of systemic amyloidosis

Background: Vitreous amyloidosis is a very rare condition characteristic of
hereditary systemic amyloidosis associated with polyneuropathy, which is
caused by transthyretin (TTR) gene mutation. The aim of this paper is to
present two sisters in whm vitreous involvement was the indication of TTR-
related familial form of systemic amyloidosis.
Material/Methods: Report of two cases.
Results: Two sisters (36- and 40-year-old) presented with gradual bilateral deterioration of vision for a few months. The younger one has had sensory disorders and increasing weakness of lower extremities for few years. Their father died in the age of 44 with symptoms of advanced polyneuropathy and blindness of unknown aetiology. Based on ophthalmologic examination vitreous amyloidosis was suspected in both sisters. In the older patient successful pars plana vitrectomy of the right eye was performed because of significant vision loss. The histopathological examination of subcutaneous fat in both patients and additionally of vitreous specimens in older sister confirmed the diagnosis of TTR- related familial form of systemic amyloidosis. During follow-up significant deterioration of clinical condition with progressive motor disability and autonomic disorders was observed in the younger patient. Due to progressive nature of the disease and poor prognosis, the patients were qualified to the liver transplantation, which is now the only effective treatment of the disease.
Conclusions: Vitreous amyloidosis should be included into differential diagnosis of changes in the vitreous, especially when neurologic manifestation and positive family history co-exist. The ophthalmoscopic characteristics of this very rare disease may lead to the diagnosis of TTR-related familial form of systemic amyloidosis associated with polyneuropathy and allow to implement the proper therapy.

Keywords: Liver Transplantation, case report