Secondary glaucoma in familial amyloid polyneuropathy

Purpose To describe the clinical features of secondary glaucoma associated with transthyretin (TTR)-related Familial Amyloid Polyneuropathy (FAP). Methods In this retrospective monocentric study, 5 patients with FAP associated secondary glaucoma were seen at the ophtalmologic consultation of the french national center for FAP between 2011 and 2012. The mutation of the amyloidogenic TTR variants was analysed for all patients. All patients had a complete ophthalmic examination including BCVA, IOP, slit lamp and optic disc photographs, gonioscopy, pachymetry, automated perimetry, and OCT-RNFL. Glaucomatous optic neuropathy was diagnosed based on the presence of visual field abnormalities, neuroretinal rim thining, excavation or RNFL defects. Medical and surgical treatments were analysed for all patients. Results All cases had bilateral involvement except 2 monophtalmic patients. All patients were of portuguese origin and carriers of the Val30Met mutation. There were 4 women and 1 man with a mean age of 58.8±7.7 years. Mean BCVA was 0,83±0.9 LogMAR. Three eyes had a BCVA below 20/400. Mean IOP was 26.6±6.6 mmHg. Mean deviation was -17.6±11.2dB. Fringed pupil and anterior chamber amyloid deposition were noted in all affected eyes. Three patients had concomitent vitreous involvement. Patients were treated with 1.2±1.5 ocular hypotensive drugs. Four eyes had been treated with at least 1 filtrating surgery. Conclusion FAP-associated secondary glaucoma is a very severe disease, associated with amyloid deposits in the anterior chamber and characteristic pupil deformation. Systematic and comprehensive eye examination should be performed in all patients affected with FAP in order to improve early detection of glaucoma.