A prospective study of ocular manifestations in transthyretin‐related familial amyloid polyneuropathy

Abstract

AbstractPurpose To study the prevalence and the clinical characteristics of ocular manifestations of transthyretin‐related familial amyloid polyneuropathy (TTR‐FAP).Methods This prospective monocentric observational study was conducted at the french national reference center for TTR‐FAP. Genetically confirmed TTR‐FAP patients had a complete neurologic and ophthalmologic evaluation. Sensorimotor polyneuropathy (SPN)and vegetative neuropathy were staged. Ophthalmic examination included best corrected visual acuity (BCVA), Schirmer test, intraocular pressure (IOP), slit lamp photographs, gonioscopy, fundus examination, ultrasound pachymetry, and RNFL‐OCT. Automated perimetry was performed when necessary. Medical and surgical treatments were analysed for all patients.Results Fifty seven patients (31 males and 26 females, aged 26‐83 years, mean 53.6±13.6 years, were included between 2011 and 2013. Patients were mainly of Portuguese origin (N=28; 49%). Val30Met mutation was present in 42 patients (73.7%). Ocular Hypertension (IOP>21mmHg) and glaucoma occurred in 11 patients (19.3%) and were associated with amyloid deposits in the anterior chamber with a "clamshell" pupil in 91.3% of cases. Amyloid vitreous deposits were present in 12 patients (21%) and had already required vitrectomy in 9 eyes of 5 patients. A BCVA of 20/200 or worse in one eye was found in 9 patients (15.8%) and was caused by secondary glaucoma in 66% of cases.Conclusion In our series, amyloid glaucoma was exclusively found in carriers of the Val30Met mutation. OHT and glaucoma occurred more frequently in patients with autonomic neuropathy. Severe visual impairment was mainly caused by secondary glaucoma, and was associated with severe SPN.