TRANSTHYRETIN-RELATED TTR HEREDITARY AMYLOIDOSIS OF THE VITREOUS BODY- CLINICAL AND MOLECULAR CHARACTERIZATION IN 2 ITALIAN FAMILIES

Two unrelated Italian families affected by hereditary amyloidosis are described. Molecular genetic characterization demonstrated different m utations of the transthyretin gene. In all patients belonging to the T TR Ala 49 family the vitreous body, the heart and the peripheral nervo us system were massively infiltrated by amyloid matter. In the TTR Pro 36 family vitreous opacities were the long-standing isolated manifest ations of the disease. Two different patterns of vitreous deposits can be observed in these two families. The authors' data support the hypo thesis that different pathological transthyretin proteins may have dif ferent affinity for the connective tissue in the vitreous.