Familial Oculo-Leptomeningeal Transthyretin Amyloidosis Caused by Leu55Arg Mutation
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Hereditary transthyretin amyloidosis (hATTR amyloidosis) is a multisystemic disease usually presenting in a mixed neurological and cardiological phenotype. We present a case of hATTR amyloidosis associated with Leu55Arg mutation causing a form of familial ocul... ...