As a generalised connective tissue disorder, involvement of multiple tissues can usually be demonstrated, but the recent identification of a single patient with BCS due to a homozygous frame shift mutation in ZNF469 and no extra-ocular manifestations by the age of 37 years [5] is notable as it suggests that such mutations could cause non-syndromic presentations in other patients, and therefore, potentially be a rare cause of keratoconus or apparently isolated corneal rupture. The gene discussed is ZNF469; the disease is keratoconus.