Ocular phenotype and therapeutic interventions in keratitis-ichthyosis-deafness (KID) syndrome.
Keri Mc LeanStefano BignottiMichele CalleaFrancisco Cammarata-ScalisiBernhard StegerDavid ArmstrongMaeve LaganJanet SintonFrancesco SemeraroStephen B KayeVito RomanoColin E WilloughbyPublished in: Ophthalmic genetics (2023)
Keratitis-ichthyosis-deafness syndrome is a rare ectodermal dysplasia caused by heterozygous mutations in GJB2 (Cx26) with a severe, progressive vascularizing keratopathy. Oral ketoconazole therapy may offer benefit in stabilizing the corneal and skin disease.