TGFBI and keratoconus: Instead, keratoconus in this family is likely due to the identified novel germline variant, His403Gln in TGFBI (Supporting Fig. 1), abnormalities of which have previously been reported in association with keratoconus and autosomal dominant forms of corneal dystrophy.28, 29 Thus, the occurrence of keratoconus and ADH2 in this family are not genetically associated, but are instead due to digenic inheritance of mutations involving TGFBI and Gα11.