Specific ophtalmologic changes in late onset familial amyloid polyneuropathy (FAP) portuguese patients
نویسندگان
چکیده
Results Thirteen patients were female. The mean onset age was 58 years and average evolution time of the disease was 5, 6 years. All patients were TTR Met30 and 2 patients were compound heterozygous TTR met30 met119. Four patients had been submitted to liver transplant and nine were on Tafamidis treatment. Amyloid deposits on anterior lens surface were observed in 15 eyes (37,5%), scalloped pupil in 8 eyes (20%) and vitreous opacities in 23 eyes (57,5%). Nine had underwent vitrectomy. Glaucoma was present in 13 eyes and 4 have been submitted to surgery.
منابع مشابه
Ophtalmologic changes in transthyretin familial amyloid polyneuropathy (ATTR-FAP)
Background Familial amyloid polyneuropathy (FAP) is an inherited disorder with autosomal dominant transmission and multiple phenotypes, characterized by systemic accumulation of amyloid fibrils. The most common type of FAP is related to a mutant transthyretin (TTR). TTR is mainly synthesized in the liver, but few amount of TTR is produced in the eye, namely in retinal pigment epithelium, which ...
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عنوان ژورنال:
دوره 10 شماره
صفحات -
تاریخ انتشار 2015