Fabry disease due to G171S GLA mutation: An atypical small nerve fiber sparing variant?
Sign Up to like & getrecommendations! Published in 2020 at "European journal of ophthalmology"
DOI: 10.1177/1120672120939496
Abstract: INTRODUCTION To describe the ocular manifestations and in vivo confocal microscopic findings in a patient carrying the recently described hemizygous G171S GLA gene mutation. CASE DESCRIPTION A 63-year-old Albanian male patient was evaluated for cataract… read more here.
Keywords: fabry disease; g171s; disease; gla ... See more keywords