SCIENTIFIC POSTER_Ines Casal_2

Familial amyloidosis TTR V30M is caused by an amino acid substitution of methionine for valine at position 30 of transthyretin (TTR), a transport protein. This leads to an extracellular amyloid deposition in peripheral nerves causing motory, sensory and autonomic neuropathy in solid organs and the eye. The major production of circulating TTR is in the liver, but some production occurs also in the choroid and retinal pigment epithelium. Other ocular manifestations include abnormal conjunctival vessels, keratoconjunctivitis sicca, pupillary abnormalities, glaucoma, deposition of amyloid on the anterior capsule of the lens, vitreous opacities and retinal amyloid angiopathy. As this is a severe and progressive disorder, liver transplantation has been shown to increase survival rates and delay progression of neuropathy. However, TTR production in the eye continues despite liver transplantation. The aim of this study was to assess the impact of liver transplantation on the natural history of the ocular manifesttion in patients with familial amyloidosis, particularly in the posterior segment with respect to vitreous amyloid deposits and retinal amyloid angiopathy. The investigation is based on retrospective data of 64 patients with FAP (32 liver-transplanted patients and 32 non-transplanted patients) from the Ophthalmology department of Centro Hospitalar do Porto. Like other authors, we observed a maintenance or even worsening of posterior segment findings. Worsening after liver transplantation was reported especially in the early years after the transplant. This phenomenon could be explained by an observational bias, e.g. a decreased survival of non-transplanted patients with a more aggressive and life-threatening disease. Another explanation could be the aggressive immunosuppressive therapy after liver transplant and psychological factors such as stress which may also contribute to the increased production of endoocular TTR. Furthermore ocular abnormalities may become more frequent with time as there is an increased survival of transplanted patients that now witness progression of ocular amyloidosis-related disease. Conclusion : Posterior segment ocular manifestations progress despite of liver transplantation due to the production of mutant TTR by retinal pigmented epithelium. Thus, liver transplanted and non-transplanted patients require a careful and long-term ophthalmologic follow-up.