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10.3109/13506129.2015.1015678

http://scihub22266oqcxt.onion/10.3109/13506129.2015.1015678
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suck abstract from ncbi


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pmid26096568      Amyloid 2015 ; 22 (2): 117-22
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  • Ophthalmological manifestations in hereditary transthyretin (ATTR V30M) carriers: a review of 513 cases #MMPMID26096568
  • Beirão JM; Malheiro J; Lemos C; Beirão I; Costa P; Torres P
  • Amyloid 2015[Apr]; 22 (2): 117-22 PMID26096568show ga
  • Purpose: Assessment of ocular involvement in transthyretin-related familial amyloidosis with polyneuropathy (FAP) in a large cohort of Portuguese patients.Methods: We reviewed the medical records of 513 Portuguese FAP mutation carriers, at the Ophthalmology Service, Centro Hospitalar do Porto, between 1 January 2008 and 31 January 2013. Abnormal conjunctiva vessels (ACV), Schirmer test, tear break-up time (TBUT), amyloid deposition on the iris (DAI), scalloped iris, amyloid deposition on the anterior capsule of the lens (DAL), vitreous amyloidosis, retinal amyloid angiopathy and glaucoma were evaluated and registered.Results: Of the 513 carriers, 477 (93%) had clinical systemic disease with a median duration of 9.3 (5.1?13.7) years and 247 were men. Of these, 343 (72%) had been liver transplanted, on median of 6.6 (3.3?10.8) years before inclusion in this study. No ocular abnormalities were identified in the asymptomatic carriers (7%). The abnormalities observed with decreasing frequency were abnormal TBUT (379 patients, 79.5%, 751 eyes), abnormal Schirmer test (320 patients, 67%, 635 eyes), DAI (183 patients, 38.4%, 350 eyes), DAL (157 patients, 32.9%, 308 eyes), scalloped iris (133 patients, 27.9%, 238 eyes), glaucoma (97 patients, 20%, 165 eyes), vitreous amyloidosis (83 patients, 17.4%, 139 eyes), ACV (68 patients, 14%, 136 eyes) and amyloidotic retinal angiopathy (21 patients, 4%, 32 eyes).Patients with abnormal Schirmer test (p?50 years old) and asymptomatic carriers. We observed a statistically significant difference in the prevalence of ACV (p?=?0.045) and of an abnormal Schirmer test (p?=?0.004) between groups. Transplanted patients have a significantly higher prevalence of DAI (p?=?0.001), DAL (p?=?0.009) and vitreous amyloidosis (p?=?0.025) than non-transplanted patients. Of the 165 eyes with glaucoma, 92.1% had scalloped iris (p?
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