THRB and Visual impairment: However, monoallelic or biallelic THRB variants have only been associated with generalized or selective pituitary RTHβ in humans (Refetoff et al., 1967; Gershengorn and Weintraub, 1975; Weiss et al., 1993; Adams et al., 1994; Ferrara et al., 2012; Ortiga-Carvalho et al., 2014), with just a few patients showing visual impairment (Frank-Raue et al., 2004; Weiss et al., 2012).