First Author: C.Vale PORTUGAL
Co Author(s): A. Figueiredo N. Ferreira T. Coelho 0 0 0 0 0 0 0 0 0
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to report ocular manifestations in FAP patients that are compound heterozygotes with Val30Met and Thr119Met mutations.
Hospital Santo António (HSA) - Centro Hospitalar do Porto
retrospective observational consecutive case series of 2 FAP patients with two TTR mutations, Val30Met and Thr119Met. Demographic data, age of onset of symptoms, stage of disease, ophthalmologic changes and previous ocular surgeries were evaluated.
Two patients from early onset families, both aged 67 years, one male, with onset of symptoms at 56 years, and one female, with onset at 62 years. Both are in stage 1 and both are on Tafamidis. The two patients had glaucoma, amyloid deposits on anterior lens surface and pupillary border. Some vitreous opacities were present but did not impair fundoscopy nor made vitrectomy required. Scalloped pupil was observed in 3 eyes. The female patient had glaucoma surgery on both eyes.
the presence of the non-pathogenic mutation Thr119Met in carriers of the pathogenic mutation Val30Met has been described as protective. In fact, these two patients had a much later age of onset as compared to their relatives but besides neuropathy they also present eye disease. Therefore, the ophthalmologist has an important role in the follow-up of these compound heterozygous FAP patients.